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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Same entry as in 21+ (Hafner et al, 1998).

  • Same entry as in 2+ (Hahnemann and Vejerslev, 1997).

  • Same entry as in 2+ (Van et al, 1998).

  • Same entry as in 130000 (Abe et al, 1975).

  • Addor C, Cox J N, Cabrol C, Crippa L: Patau''s syndrome: A pathological and cytogenetic study of two cases. J. Genet. Hum. 23:83-109, 1975.
    A review of data on Patau syndrome has been attempted.
    Index Terms: Patau syndrome (trisomy 13)
  • Allen J C, de Venecia G, Opitz J M: Eye findings in the 13 trisomy syndrome. Europ. J. Ped. 124:179-183, 1977. [PubMed: 402271]
    The abnormal eye findings of the first reported case of Patau et al (1960) are documented in this report and include severe microphthalmia, coloboma of the ciliary body, cataracts, detached retina and retinal dysplasia.
    Index Terms: Coloboma,Eye ... anomalies,Eye ... microphthalmia,Microphthalmia,Patau syndrome (trisomy 13),Retinal ... dysplasia
  • Aubrey J P, Aubrey M C, Henrion R, Boue J, Labbe F: Depistage echographique des anomalies chromosomiques a propos des trisomies 13 et 18. J. Genet. Hum. 30:233-253, 1982. [PubMed: 7153769]
    Index Terms: Edwards syndrome (trisomy 18),Patau syndrome (trisomy 13)
  • Aziz M A: Anatomical defects in a case of trisomy 13 with a D/D translocation. Teratology 22:217-227, 1980. [PubMed: 7444809]
    Aziz M A: Muscular anomalies caused by delayed development in human aneuploidy. Clin. Genet. 19:111-116, 1981. [PubMed: 7471506]
    Aziz M A: "Possible ""Atavistic"" structures in human aneuploids." Am. J. Phys. Anthro. 54:347-353, 1981. [PubMed: 7234983]
    46,XX,t(13q13q).&Parental karyotypes were normal.
    Index Terms: Muscles ... anomalies,Patau syndrome (trisomy 13)
  • Barr M, Jr.: Growth profiles of human autosomal trisomies at midgestation. Teratology 50:395-398, 1994. [PubMed: 7778044]
    Somatic and visceral growth profiles of midgestation demonstrate that each disorder has a charactersitic pattern of growth aberration. The most striking deviations are supranormal spleen and kidney weights.
    Index Terms: Growth profiles
  • Baty B, Blackburn B, Carey J: A natural history study of trisomy 18 and trisomy 13. Clin. Res. 37:183A, 1989.
    Baty B J, Blackburn B L, Carey J C: Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. AJMG 49:175-188, 1994. [PubMed: 8116665]
    Baty B J, Jorde L B, Blackburn B L, Carey J C: Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. AJMG 49:189-194, 1994. [PubMed: 7509567]
    An evaluation based on 128 individuals.
  • Bawle E V.: Does the survival data on trisomy 13 and 18 take into account influences of modern interventions? J. Med. Genet. 39:54e, 2002.
    Borgaonkar, D S: Survival in trisomy 13. J. Med. Genet. 39:e, 2002.
    Brewer C M, Holloway S H, Stone D H, Carothers A D, FitzPatrick D R.: Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J. Med. Genet. 39:e54-e54, 2002. [PMC free article: PMC1735241] [PubMed: 12205124]
  • Same entry as in Triploidy (Benacerraf B R et al, 1990).

  • Benacerraf B R: Prenatal sonography of autosomal trisomies. Ultrasound Obstet. Gynecol. 1:66-75, 1991. [PubMed: 12797107]
    Index Terms: Sonography ... prenatal
  • Borgaonkar D S: Personal observations, 1995.
    Henderson A A, Borgaonkar D S: Trisomy 13 (Patau) syndrome in Delaware. Del. Med. J. 57:629-634, 1985. [PubMed: 4076474]
    Shivashankar L, Borgaonkar D S: Trisomy 13 update. Del. Med. J. 59:105-106, 1987. [PubMed: 3556680]
    Data on 7 patients, including color photographs showing clinical features, are presented.
    One of the female patients is 12 years old. Maternal nondisjunction at second meiotic division was demonstrated with chromosome markers.
    47,XX or XY,+13.&46,XY,t(13q13q)de novo.&46,XY,-14,+t(13q14q)de novo.
    The 12-year-old was seen recently by me (DSB) on 7-17-1995 and I was pleased to see her walk towards me! This is the first patient with trisomy 13 that I have seen who has walked in my 30 years of practice in medical genetics.
    Index Terms: Patau syndrome (trisomy 13)
  • Boyd P A, Lindenbaum R H, Redman C: Pre-eclampsia and trisomy 13: a possible association. Lancet ii:425-427, 1987. [PubMed: 2887728]
    Index Terms: Patau syndrome (trisomy 13)
  • Bruns D.: Pregnancy and birth history of newborns with trisomy 18 or 13: a pilot study. AJMG Part A: DOI=10.1002/ajmg.a.32147; 146A: 321-325, 2008. [PubMed: 18098281]
  • Butler L J, Reiss H E, France N E, Briddon S: Antenatal diagnosis of Patau''s syndrome (trisomy 13) including a detailed pathological study of the fetus. J. Med. Genet. 10:367-370, 1973. [PMC free article: PMC1013058] [PubMed: 4129972]
    A rare instance of Patau syndrome in a family with 13q22q Robertsonian translocation.
    Index Terms: Patau syndrome (trisomy 13)
  • Same entry as in 21+ (Carothers, 1994).

  • Cavalli P, Luongo R.: Multiple aneuploidy recurrence. AJMG 137A:104-105, 2005. [PubMed: 16007627]
    Hassold T J, Burrage L C, Chan E R, Judis L M, Schwartz S, James S J, Jacobs P A, Thomas N S.: Maternal folate polymorphisms and the etiology of human nondisjunction. AJHG 69:434-439, 2001. [PMC free article: PMC1235315] [PubMed: 11443546]
    Zaragoza M V, Jacobs P A, James R S, Rogan P, Sherman S, Hassold T.: Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns. Hum. Genet. 94:411-417, 1994. [PubMed: 7927339]
    Index Terms: Nondisjunction
  • Chabra S, Kriss V M, Pauly T H, Hall B D.: Neurosonographic diagnosis of thalamic/basal ganglia vasculopathy in trisomy 13 - an important diagnostic aid. AJMG 72:291-293, 1997. [PubMed: 9332656]
    4/13 patients, who had sonography, demonstrated a linear, branching, echogenic pattern in the thalamus/basal ganglia.
    Index Terms: Thalamic/basal ganglia vasculopathy
  • Chen C P, Liu F F, Jan S W, Su T H, Lan C C.: A concealed penis mimicking penile agenesis in an infant with trisomy 13. Clin. Genet. 50:156-158, 1996. [PubMed: 8946116]
    The patient died 5 days after birth.
    Index Terms: Penile agenesis
  • Chen M, Shih J-C, Wang B-T.: Trisomy 13 manifested as hypoplastic left heart and other structural abnormalities. Prenat. Diag. 23: 1102-1103, 2003. [PubMed: 14692004]
    Cord blood=47,XX,+13.
    The 23 year-old was referred because the 28 week fetus was suspected of having MCA.
    Index Terms: Hypoplastic left heart
  • Chitty L S, Pandya P P.: Ultrasound screening for fetal abnormalities in the first trimester. Prenat. Diag. 17:1269-1281, 1997. [PubMed: 9509545]
    Chitty L S.: Ultrasound screening for fetal abnormalities. Prenat. Diag. 15: 1241-1257, 1995. [PubMed: 8710765]
    These two reviews of the data show that autosomal trisomy fetuses have abnormalities which include nuchal translucency, choroid plexus cysts, ventriculomegaly, enlarged cisterna magna, nuchal oedema, facial cleft, clinodactyly, fisted hand, polydactyly, mild pyelactasis, relatively short femur, talipes, and rocker-bottom feet.
    Index Terms: Nuchal ... translucency,Choroid plexus cysts,Ventriculomegaly,Enlarged cisterna magna,Facial cleft,clinodactyly,Fisted hand,Polydactyly,Mild pyelactasis,Femur ... relatively short,Talipes,Rocker-bottom feet
  • Claussen U, Ulmer R, Beinder E, Voigt H J: Six years'' experience with rapid karyotyping in prenatal diagnosis: correlations between phenotype detected by ultrasound and fetal karyotype. Prenat. Diag. 14:113-121, 1994. [PubMed: 8183848]
    9/804 cases.,Anomalies included polyhydramnios, oligohydramnios, growth retardation, fetal effusions, neural tube defects, craniofacial defects, heart defects, gastroschisis and omphalocele, gastrointestinal tract defects, urinogenital defects, and limb defects.
    Index Terms: Polyhydramnios,Oligohydramnios,Gastroschisis,Omphalocele
  • Colacino S C, Pettersen J C: Analysis of the gross anatomical variations found in four cases of trisomy 13. AJMG 2:31-50, 1978. [PubMed: 122447]
    Data on four cases are presented. Emphasis is on the muscular system which included absence of palmaris longus, palmaris brevis, plantaris, and peroneus tertius, the presence of pectorodorsalis muscles and muscles from the central tendon of the diaphragm -> the pericardium near the pulmonary veins, and variations in the extensor indicis, extensor carpi radialis longus and brevis, biceps, and suprahyoid muscles. The brain defects were absent olfactory bulbs and tracts and hypoplastic commissures.
    Index Terms: Muscles ... anomalies,Patau syndrome (trisomy 13)
  • Cowen J M, Walker S, Harris F: Trisomy 13 and extended survival. J. Med. Genet. 16:155-157, 1979. [PMC free article: PMC1012743] [PubMed: 458834]
    A 9-year-old boy with classical clinical features of trisomy 13 (Patau''s syndrome), with confirmation on chromosome analysis of blood and skin, is reported in view of his relative longevity.
    Index Terms: Patau syndrome (trisomy 13)
  • Crider K S, Olney R S, Cragan J D.: Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. AJMG Part A: 146A: 820-826, 2008. [PubMed: 18348276]
    Index Terms: Atlanta
  • Cunniff C, Jones K L, Benirschke K: Ovarian dysgenesis in individuals with chromosomal abnormalities Hum. Genet. 86:552-556, 1991. [PubMed: 2026420]
    Eight cases were reported, all had numerous other associated malformations.
  • Same entry as in 13p100 (Daniel and Lam-Po-Tang, 1976).

  • Delatycki M, Gardner R J M.: Three cases of trisomy 13 mosaicism and a review of the literature. Clin. Genet. 51:403-407, 1997. [PubMed: 9237504]
  • Delatycki M B, Pertile M D, Mckinlay Gardner R J.: Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation. Prenat. Diag. 18:45-49, 1998. [PubMed: 9483639]
    6 cases are discussed.
    Effect on phenotype is uncertain.
    Index Terms: Mosaicism at prenatal diagnosis
  • De Veciana M, Major C A, Porto M: Prediction of an abnormal karyotype in fetuses with omphalocele Prenat. Diag. 14:487-492, 1994. [PubMed: 7524058]
    40 consecutive fetuses were studied.
    47,XX or XY,+13.
    Index Terms: Omphalocele
  • Di Giacomo M C, Susca F C, Resta N, Bukvic N, Vimercati A, Guanti G.: Trisomy 13 mosaicism in a phenotypically normal child: Description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age. AJMG Part A: DOI=10.1002/ajmg.a.31515, 2007. [PubMed: 17163529]
    Mother was 43 years old.
    Amnio at 16 weeks=27/34 (80%)-13+.,Cord blood at 19 weeks=10%-13+ in 100 cells scored.,CVS at cordocentesis=47,XX,+13 (11 cells in short term and 13 cells from long-term).,Cord blood at delivery=10% of 107 cells were 13+.
    Ultrasound examination did not reveal fetal abnormalities and delivery was normal at 39 weeks..
    Index Terms: Mosaic 13 trisomy
  • Dombrowski M P, Berry S M, Isada N B, Jones T B, Evans M I: Abnormal second-trimester ultrasounds: an indication for karyotype. Fetal Diag. Ther. 8:10-14, 1993. [PubMed: 8452645]
    2,823 singleton, viable fetuses were studied.
    Three cases of trisomy 13 were found to be associated with cardiac (2), hydrocephalus (2), and gastrointestinal (2) anomalies.
    Index Terms: Hydrocephalus
  • Drut R M, Harris C P, Drut R, Meisner L.: Use of fluorescent in situ hybridization to detect trisomy 13 in archival tissues for cytogenetic diagnosis. Pediat. Path. 12:799-805, 1992. [PubMed: 1448389]
    Index Terms: FISH in Archival tissue
  • Eubanks S R, Kuller J A, Amjadi D, Powell C M.: Prenatal diagnosis of mosaic trisomy 13: a case report. Prenat. Diag. 18:971-974, 1998. [PubMed: 9793984]
  • Farina A, Sekizawa A, Ralston S J, D''Alton M E, Bianchi D W.: Latent class analysis applied to patterns of fetal sonographic abnormalities: definition of phenotypes associated with aneuploidy. Prenat. Diag. 19:840-845, 1999. [PubMed: 10521842]
    Six cases were studied.
    Among 40 fetal malformations and/or sonographic markers, the most important findings in generating specific karyotypic groups were cystic hygroma (class 1), duodenal atresia (class 2), holoprosencephaly (class3), and omphalocele (class 4), respectively. Accuracy of the classification was 88 per cent for trisomy 13 (class 3).
    Index Terms: Latent class analysis
  • Feinberg R F, Kliman H J, Cohen A W: Preeclmapsia, trisomy 13, and the placental bed. Obstet. Gynecol. 78:505-508, 1991. [PubMed: 1870809]
    Index Terms: Preeclampsia,Placenta
  • Fejgin M, Barnes I, Lipnick N, Magid Z, Kohn G, Amiel A: The dilemma of a low rate of chromosomal mosaicism found in fetal blood sampling. Prenat. Diag. 12:129-131, 1992. [PubMed: 1553358]
    Patient S.A.
    mos46,XX/47,XX,+13(4/10 cells)-amniotic fluid.&mos46,XX/47,XX,+13(1/160 cells)-fetal blood.
    The abortus was found to be normal and cultures from various tissues gave a normal karyotype.
    Index Terms: Mosaicism
  • Same entry as in 18+ (Ferencz C et al, 1989).

  • Fernandez-Novoa C, Hevia A, Martinez J J, San Martin V, Galera H: Trisomy 13 in a four year old child. Hum. Genet. 53:297-298, 1980. [PubMed: 7372331]
    The evidence presented that the patient has trisomy 13 is not entirely satisfactory.
    Index Terms: Patau syndrome (trisomy 13)
  • Ferreira A P S, Mazzucatto L F, Ramos E S, Pina-Neto J M.: Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features. Braz. J. Genet. 19:655-657, 1996.
    mos47,XX,+13(10 cells)/46,XX(10 cells)-skin;,46,XX(200 cells)-blood
    At 19 months of age, the infant was being evaluated for delayed psychomotor development, syndactyly between toes, hypertrichosis and epicanthal folds, supernumerary nipple, hyperpigmented macules and other dysmorphic features.
    Index Terms: Mosaicism
  • Ferrer I, Ribalta T, Fabregues I, Pineda M, Cusi V: A golgi study of cerebellar malformation in 13 trisomy. Clin. Neuropath. 5:53-59, 1986. [PubMed: 2423283]
    Cases 1 and 2: 47,XY,+13.
    Index Terms: Patau syndrome (trisomy 13)
  • Same entry as in Triploidy (Feuchtbaum et al, 1995).

  • FitzPatrick D R, Boyd E: Recurrences of trisomy 18 and trisomy 13 after trisomy 21. Hum. Genet. 82:301, 1989. [PubMed: 2525109]
  • Fogu G, Maserati E, Cambosu F, Moro M A, Poddie F, Soro G, Bandiera P, Serra G, Tusacciu G, Sanna G, Mazzarello V, Montella A.: Patau syndrome with long survival in a case of unusual mosaic trisomy 13. Europ. J. Med. Genet. 51: 303-314, 2008. [PubMed: 18495567]
    Unfortunately these authors did not do a thorough literature search nor did the editors! There are other 13+ patients with longer survival as well (eg see in this database).
  • Same entry as in 13p110 (Fryns et al, 1989).

  • Garcia F P, Hsu L Y F, Fox H, Gribetz D: Trisomy 13 and Rubinstein-Taybi syndrome. J. Med. Genet. 12:104-105, 1975. [PMC free article: PMC1013239] [PubMed: 1121015]
    Case 100970 in this report.
    Index Terms: Patau syndrome (trisomy 13),Rubinstein-Taybi syndrome
  • Gilbert L A, Dudley A W, Meisner L F, Viseskul C, de Venecia G: New neurological findings in trisomy 13. Arch. Path. Lab. Med. 101:540-544, 1977. [PubMed: 578686]
    The neuropathologic entities were herniation of the cochlear nuclei, retinal pigment epithelium within the optic nerve, arachnoid cyst at the cauda equina.
    Index Terms: Cyst ... arachnoid,Herniation ... arachnoid cyst,Ocular (optic) anomalies,Patau syndrome (trisomy 13)
  • Goldstein H, Nielsen K G: Rates and survival of individuals with trisomy 13 and 18. Data from a 10-year period in Denmark. Clin. Genet. 34:366-372, 1988. [PubMed: 3233784]
  • Gould S L, Martin-DeLeon P A: BrDU-Giemsa labeling studies of satellite associations in parents of children with trisomy 21 or 13. AJMG 26:971-981, 1987. [PubMed: 2438933]
    Index Terms: Down syndrome (Trisomy 21),Patau syndrome (trisomy 13)
  • Greenberg F, Carpenter R J, Ledbetter D H: Cystic hygroma and hydrops fetalis in a fetus with trisomy 13. Clin. Genet. 24:389-391, 1983. [PubMed: 6652950]
    Index Terms: Cystic hygroma,Hydrops,Hygromata,Patau syndrome (trisomy 13)
  • Griffin D K, Millie E A, Redline R W, Hassold T J, Zaragoza M V.: Cytogenetic analysis of spontaneous abortions: comparison of techniques and assessment of the incidence of confined placental mosaicism. AJMG 72:297-301, 1997. [PubMed: 9332658]
    ID No. A256:
    Cytotrophoblast (direct)=46,XY (3).,Extraemb mesoderm (culture)=47,XY,+13(8).
    Index Terms: CPM
  • Gullotta F, Rehder H, Gropp A: Descriptive neuropathology of chromosomal disorders in man. Hum. Genet. 57:337-344, 1981. [PubMed: 6456980]
    Index Terms: Patau syndrome (trisomy 13)
  • Same entry as in 18+ (Halliday J et al, 1994).

  • Same entry as in 18+ (Hanna et al, 1996).

  • Hassold T J, Jacobs P A, Leppert M, Sheldon M: Cytogenetic and molecular studies of trisomy 13. J. Med. Genet. 24:725-732, 1987. [PMC free article: PMC1050401] [PubMed: 2892938]
    Hassold T J, Matsuyama A, Newlands I M, Matsuura J S, Jacobs P A, Manuel B, Tsuei J: A cytogenetic study of spontaneous abortions in Hawaii. Ann. Hum. Genet. 41:443-454, 1978. [PubMed: 655633]
    Hassold T J, Warburton D, Kline J, Stein Z: The relationship of maternal age and trisomy among trisomic spontaneous abortions. AJHG 36:1349-1356, 1984. [PMC free article: PMC1684653] [PubMed: 6517056]
    Jacobs P A, Hassold T J, Henry A, Pettay D, Takaesu N: Trisomy 13 ascertained in a survey of spontaneous abortions. J. Med. Genet. 24:721-724, 1987. [PMC free article: PMC1050400] [PubMed: 3430552]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Patau syndrome (trisomy 13)
  • Same entry as in 4+ (Hassold T J and Matsuyama A, 1979).

  • Hecht F: Letter to Editor: Who will survive with trisomy 13 or 18? a call for cases 10 years old or above. AJMG 10:417-418, 1981. [PubMed: 7332034]
    Index Terms: Edwards syndrome (trisomy 18),Patau syndrome (trisomy 13)
  • Hefler L A, Hersh D R, Moore P J, Gregg A R.: Clinical evaluation of postnatal autopsy and genetics consultation in fetal death. AJMG DOI=10.1002/ajmg.1588, 2001. [PubMed: 11746049]
    An excellent study of this important problem.
    Index Terms: Fetal death evaluation
  • Same entry as in 9+ (Herman T E and Siegel M J, 1991).

  • Heydanus R, Defoort P, Dhont M.: Pre-eclampsia and trisomy 13. Europ. J. Obstet. Gynecol. Reprod. Biol. 60:201-202, 1995. [PubMed: 7641975]
    Index Terms: Pre-eclampsia
  • Hodes M E, Cole J, Palmer C G, Reed T: Clinical experience with trisomies 18 and 13. J. Med. Genet. 15:48-60, 1978. [PMC free article: PMC1012823] [PubMed: 637922]
    Some useful information as regards prevalence of clinical features, longevity and other data are -> be found.
    Index Terms: Edwards syndrome (trisomy 18),Patau syndrome (trisomy 13)
  • Hook E B: Rates of 47,+13 and 46 translocation D/13 Patau syndrome in live births in comparison with rates in fetal deaths and at amniocentesis. AJHG 32:849-858, 1980. [PMC free article: PMC1686165] [PubMed: 7446526]
    Hook E B, Cross P K, Regal R R: The frequency of 47,+21, 47,+18, and 47,+13 at the uppermost extremes of maternal ages: results on 56,094 fetuses studied prenatally and comparisons with data on livebirths. Hum. Genet. 68:211-220, 1984. [PubMed: 6500575]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Patau syndrome (trisomy 13)
  • Hyett J, Moscoso G, Nicolaides K.: Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses. AJMG 69:207-216, 1997. [PubMed: 9056563]
    It is postulated that narrowing of the aortic isthumus may be the basis of increased nuchal thickness in all of the four ie trisomies of 13, 18, and 21 and 45,X chromosome abnormalities.
    Index Terms: Heart and Great arteries abnormalities
  • Same entry as in 0X0000 (Igarashi et al, 1985).

  • Iliopoulos D, Sekerli E, Vassiliou G, Sidiropoulou V, Topalidis A, Dimopoulou D, Voyiatzis N.: Patau syndrome with a long survival (146 months): a clinical report and review of literature. AJMG 140A: 92-93, 2006. [PubMed: 16333832]
    An inadequate review of the literature!
  • Ishikiriyama S, Niikawa N: Origin of extra chromosome in Patau syndrome. Hum. Genet. 68:266-268, 1984. [PubMed: 6500580]
    The ratio of nondisjunction was 14(maternal):3(paternal).
    Index Terms: Patau syndrome (trisomy 13)
  • Jackson L G: Personal communication, 1978.
    Index Terms: Patau syndrome (trisomy 13)
  • Same entry as in 130000 (Jalal S M et al, 1990).

  • Johnson E S, Ludwin S K: Rhabdoneuroglial heterotopias of the pontine leptomeninges in trisomy 13. Arch. Path. Lab. Med. 108:906-908, 1984. [PubMed: 6548367]
    Index Terms: Patau syndrome (trisomy 13)
  • Kalousek D K, Barrett I J, McGillivray B C: Placental mosaicism and intrauterine survival of trisomies 13 and 18. AJHG 44:338-343, 1989. [PMC free article: PMC1715446] [PubMed: 2916579]
    14 cases were studied.
    It is suggested that direct preparation is unreliable for prenatal diagnosis of these trisomies on chorionic villi sampling and that long-term villous culture should be used.
    Chromosomal Aneuploidy: 13+,18+
  • Kennedy J F, Freeman M G, Benirschke K: Ovarian dysgenesis and chromosome abnormalities. Obst. Gynecol. 50:13-20, 1977. [PubMed: 876517]
    Index Terms: Ovarian ... dysgenesis,Patau syndrome (trisomy 13)
  • Kjaer I, Keeling J W, Hansen B F.: Pattern of malformations in the axial skeleton in human trisomy 13 fetuses. AJMG 70:421-426, 1997. [PubMed: 9182786]
    Index Terms: Axial Skeleton
  • Klatt E C.: Pathological examination of fetal specimens from dilation and evacuation procedures. Am. J. Clin. Pathol. 103:415-418, 1995. [PubMed: 7726137]
    2 cases.
    The clinical prenatal diagnosis was MCA in both cases.
    Index Terms: Pathologic examination of fet(al)
  • Koole F D, Velzeboer C M J, van der Harten J J: Ocular abnormalities in Patau syndrome (Chromosome 13 trisomy syndrome). Ophthal. Paediat. 11:15-21, 1990. [PubMed: 2348978]
    8 patients were studied.
    The typical triad of microphthalmia, retinal dysplasia, and coloboma was seen.
    Disturbed invagination, disarranged coaptation, and defective closure are all causative factors in the pathogenesis.
    Index Terms: Retinal ... dysplasia,Coloboma,Microphthalmia
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
  • Kuo W L, Tenjin H, Segraves R, Pinkel D, Golbus M S, Gray J: Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes. AJHG 49:112-119, 1991. [PMC free article: PMC1683225] [PubMed: 2063863]
    Index Terms: FISH
  • Kuschel B, Gillessen-Kaesbach G.: Trisomy 13 with bilateral hand oligodactyly. AJMG 90:87-88, 2000. [PubMed: 10602126]
    Amniotic fluid=47,XY,+13
    The 18 week pregnancy was terminated at 18 weeks due to fetal anomalies. The right hand showed a hypoplastic thumb and only two other rays. The left hand showed a hypoplastic thumb and one further ray. The right foot presented with post-axial hexadactyly. There were other MCA in the fetus.
    Index Terms: Oligodactyly bilateral hand
  • Lacassie Y: Reply to Dr Rogers: comments on ectrodactyly and trisomy 18, and other conditions AJMG 49:127, 1994.
    Index Terms: Ectrodactyly
  • Laurence K M, Gregory P J, Sharp F: Prenatal detection of D trisomy. J. Med. Genet. 11:398-400, 1974. [PMC free article: PMC1013217] [PubMed: 4443990]
    Second case reported in the literature; found by amniocentesis in a 45-year-old woman who previously had a 4-year-old child with Down''s syndrome.
    Index Terms: Patau syndrome (trisomy 13)
  • Lazjuk G I, Kravtzova G I, Kulazenko V P, Yu U I, Usoev S S: Analysis of 137 cases of the trisomy D syndrome. Genetika 7:116-129, 1971,1971.
    Index Terms: Patau syndrome (trisomy 13)
  • Lazjuk G I, Lurie I W, Gurevich D B: Genetics of Patau syndrome (Analysis of 59 cases). Cytology & Genetics 6:453-454, 1984. [PubMed: 6523569]
    Index Terms: Patau syndrome (trisomy 13)
  • Same entry as in 2+ (Ledbetter D H et al, 1992).

  • Lee C S N, Boyer S H, Bowen P, Weatherall D J, Rosenblum H, Clark D B, Duke J R, Liboro C, Bias W B, Borgaonkar D S: The D1 trisomy syndrome: Three subjects with unequally advancing development. Bull. Johns Hop. Hosp. 118:374-394, 1966.
    Wiedmeier S E, Henry E, Christensen R D.: Hematological abnormalities during the first week of life among neonates with trisomy 18 and trisomy 13: data froma multi-hospital healthcare system. AJMG Part A: 146A: 312-320, 2008. [PubMed: 18203174]
    Index Terms: Patau syndrome (trisomy 13)
  • Lehman C D, Nyberg D A, Winter T C III, Kapur R P, Resta R G, Luthy D A.: Trisomy 13 syndrome: prenatal US findings in a review of 33 cases. Radiology 194:217-222, 1995. [PubMed: 7997556]
    33 consecutive fetuses with trisomy 13 and 200 normals were studied.
    46,XY,-14,+rob(13q14q);46,XX,-15,+rob(13q15q)mat;46,XX,-14,+dic(13;14)(p11;p11); and 46,XY,-13,+rob(13q;13q).
  • Same entry as in 7+ (Leschot et al, 1996).

  • Loevy H T, Miller M, Rosenthal I M: Discordant monozygotic twins with trisomy 13. Acta Genet. Med. Gemellol. 34:185-188, 1985. [PubMed: 3832730]
    Index Terms: Patau syndrome (trisomy 13)
  • Loughna S, Bennett P, Gau G, Nicolaides K, Blunt S, Moore G: Overexpression of esterase D in kidney from trisomy 13 fetuses. AJHG 53:810-816, 1993. [PMC free article: PMC1682378] [PubMed: 8213811]
    Fetus 1, 2 and 3.
    47,XX or XY,+13.
    Ascertained by ultrasound and cytogenetic analysis.
    Overexpression was seen in two fetuses with normal levels in the third. Also, overexpression was not seen in the muscle tissues.
    Index Terms: Esterase D
  • MacLeod A M, McHugo J M: Prenatal diagnosis of nuchal cystic hygroma. Brit. J. Radiol. 64:802-807, 1991. [PubMed: 1913043]
    One of the two pregnancies was terminated, while the other had an intrauterine death.
    70% cases were karyotypically abnormal (14/20). There were four long-term survivors with good quality of life. In utero regression of the hygroma was documented in 5/27 cases.
    Index Terms: Nuchal ... cystic hygroma
  • Same entry as in 12+ (Maggi et al, 1996).

  • Martlew R A, Sharples A.: Anaesthesia in a child with Patau''s syndrome. Anaesthesia 50:980-982, 1995. [PubMed: 8678257]
    A remarkable case of a 5 year old with successful outcome.
    Index Terms: Anaesthesia,Blalock-Taussig shunt
  • McKeown C M E, Donnai D: Prune Belly in trisomy 13. Prenat. Diag. 6:379-381, 1986. [PubMed: 3534871]
    MIM#: 100100
    Index Terms: Patau syndrome (trisomy 13),Prune belly syndrome
  • Same entry as in 14+ (Minelli E et al, 1993).

  • Ming P M L, Goodner D M, Park T S: Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature. AJDC 130:864-867, 1976. [PubMed: 941887]
    Index Terms: Holoprosencephaly,Patau syndrome (trisomy 13)
  • Miyabara S, Sugihara H, Maehara N, Shouno H, Tasaki H, Yoshida K, Saito N, Kayama F, Ibara S, Suzumori K: Significance of cardiovascular malformations in cystic hygroma: a new interpretation of the pathogenesis. AJMG 34:489-501, 1989. [PubMed: 2533851]
    Several fetuses with cystic hygroma or loose skin of the neck were studied.
    47,XX or XY,+13.&46,X,-15,+t(13q15q)mat.
    Index Terms: Cystic hygroma
  • Moerman P, Fryns J P, van der Steen K, Kleczkowska A, Lauweryns J: The pathology of trisomy 13 syndrome. A study of 12 cases. Hum. Genet. 80:349-356, 1988. [PubMed: 3198112]
    An interesting comment has been made "Based on autopsy data, trisomy 13 can be diagnosed -- or ruled out -- with certainty, even in the absence of karyotyping."
  • Moore G E, Ruangvytilert P, Chatzimeletiou K, Bell G, Chen C-K, Johnson P, Harper J C.: Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH. Eur. J. Hum. Genet. 8:223-228, 2000. [PubMed: 10780789]
    4 cases were studied of 19-26 weeks gestation.
    There was no clear association between the limited mosaicism seen and severity of phenotype. Hence tissue-specific mosaicism was not likely to be responsible for potential survival to birth.
  • Same entry as in 130000,13p110 (Mori et al, 1985).

  • Morris J K, Sawa G M.: The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. AJMG Part A: DOI=10.1002/ajmg.a.32220; 146A: 827-832, 2008. [PubMed: 18361449]
  • Naor N, Amir Y, Cohen T, Davidson S: Trisomy 13 in monozygotic twins discordant for major congenital anomalies. J. Med. Genet. 24:500-502, 1987. [PMC free article: PMC1050210] [PubMed: 3656374]
    Index Terms: Patau syndrome (trisomy 13),Monozygotic twins
  • Nicolaides K H, Snijders R J M, Gosden C M, Berry C, Campbell S: Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet 340:704-707, 1992. [PubMed: 1355807]
    Snijders R J M, Sebire N J, Nayar R, Souka A, Nicolaides K H.: Increased nuchal translucency in trisomy 13 fetuses at 10-14 weeks of gestation. AJMG 86:205-207, 1999. [PubMed: 10482866]
    Spencer K, Nicolaides K H.: A first trimester trisomy 13/trisomy 18 risk algorithm combining fetal nuchal translucency thickness, maternal serum free beta-hcg and PAPP-A. Prenat. Diag. 22:877-879, 2002. [PubMed: 12378569]
    In the 1992 study, 2086 patients were studied.
    31 cases were found in a total of 301 abnormal karyotypes.
    In the 1999 study, there were 46 cases of trisomy 13, and in 33 (72%) of these, the NT was above the 95th centile.
  • Niikawa N, Merotto E, Kajii T: Origin of acrocentric trisomies in spontaneous abortions. Hum. Genet. 40:73-78, 1977. [PubMed: 604246]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Patau syndrome (trisomy 13)
  • Ohashi H, Tsukahara M, Murano I, Naritomi K, Nishioka K, Miyaki S, Kajii T: Pigmentary dysplasias and chromosomal mosaicism: report of 9 cases. AJMG 43:716-721, 1992. [PubMed: 1621763]
    Patient No.5.
    Hyperpigmented lines running from the buttocks to posterior thighs and legs.
    Index Terms: Pigmentary dysplasia
  • Oosterwijk J C, Mesker W E, Ouwerkerk-van Velzen M C M, Knepfle C F H M, Wiesmeijer K C, Beverstock G C, Van Ommen G-J B, Tanke H J, Kanhai H H H. : Prenatal diagnosis of trisomy 13 on fetal cells obtained from maternal blood after minor enrichment. Prenat. Diag. 18:1082-1085, 1998. [PubMed: 9826902]
  • Paladini D, Calabro R, Palmieri S, D''Andrea T: Prenatal diagnosis of congenital heart disease and fetal karyotyping. Obstet. Gynecol. 81:679-682, 1993. [PubMed: 8469453]
    Index Terms: Congenital heart disease
  • Parker M J, Budd J L S, Draper E S, Young I D.: Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat. Diag. 23:856-860, 2003. [PubMed: 14558033]
    ''Around 12% of propspective parents of a child with trisomy 13 or 18 choose to continue rather than terminate the pregnancy!''
  • Patau K, Smith D W, Therman E, Inhorn S L, Wagner H P: Multiple congenital anomaly caused by an extra autosome. Lancet 1:790-793, 1960. [PubMed: 14430807]
    47,XX,+13.&D1 or 13 trisomy, also called Patau syndrome, was described in this report.
    Index Terms: Patau syndrome (trisomy 13)
  • Same entry as in 8+ (Pellestor et al, 1996).

  • Same entry as in 130000 (Robinson et al, 1996).

  • Same entry as in 18+ (Urioste et al, 1994).

  • Same entry as in 18+ (van et al, 1997).

  • Same entry as in 21+ (Greco et al, 1996).

  • Same entry as in 21+ (Langford et al, 2005).

  • Same entry as in 21+ (Taipale et al, 1997).

  • Same entry as in 21+ (Vesce et al, 2001).

  • Same entry as in 21+ (Yaegashi et al, 1998).

  • Same entry as in Triploidy (Phelan et al, 2001).

  • Same entry as in 130000 (Perez-Castillo and Abrisqueta, 1978).

  • Pettersen J C, Bersu E T: A comparison of the anatomical variations found in trisomies 13, 18 and 21. In Persaud, T V N, Editor: Genetic disorders, syndromology and prenatal diagnosis. New York: Liss. 161-180, 1982.
    Pettersen J C, Bersu E T: Anatomical defects and variations due to aneuploidy. BD-OAS XXIII(No. 1):315-331, 1987. [PubMed: 2953395]
    Pettersen J C, Koltis G G, White M J: An examination of the spectrum of anatomic defects and variations found in eight cases of trisomy 13. AJMG 3:183-210, 1979. [PubMed: 474630]
    In the four additional cases examined, the following previously unreported defects include the bilateral presence of cervical ribs and the bilateral absence of 12th thoracic ribs in five of the eight cases. It is suggested that a definitive diagnosis of trisomy 13 can be made on the basis of six muscle variations.
    Index Terms: Down syndrome (Trisomy 21),Edwards syndrome (trisomy 18),Patau syndrome (trisomy 13),Ribs ... anomalies
  • Plauchu H, Cambazard F, Charrin M, Salle B: Two trisomies 13 in a sibship with normal parents'' karyotypes. Ann. Genet. 24:120-123, 1981. [PubMed: 6977292]
    Mother was 23 and 35 years old at the time of births of two trisomy 13 offspring. The latter was a stillborn and a pair of twins.
    Index Terms: Patau syndrome (trisomy 13),Still born (premature)
  • Pont S J, Robbins J M, Bird T M, Gibson J B, Cleves M A, Tilford J M, Aitken M E.: Congenital malformations among liveborn infants with trisomies 18 and 13. AJMG Part A: 140A: 1749-1756, 2006. [PubMed: 16835915]
    Index Terms: Congenital malformations in 13+ and 18+ liveborns
  • Redheendran R, Neu R L, Bannerman R M: Long survival in trisomy 13 syndrome: twenty-one cases including survival in two patients 11 and 19 years old. AJMG 8:167-172, 1981. [PubMed: 7282771]
    Mean survival of the nineteen patients who died was 97.05 days; translocation patients survived longer than regular trisomy patients.
    Patient DB 040268.
    Patient LJ 121060.
    Index Terms: Patau syndrome (trisomy 13)
  • Roberts D J, Genest D: Cardiac histologic pathology characteristic of trisomies 13 and 21. Hum. Pathol. 23:1130-1140, 1992. [PubMed: 1398642]
    Index Terms: Cardiac histopathology
  • Roberts S H, Little E, Vaughan M, Creasy M R, Jones A, Powell T G, Dawson A J: Rapid prenatal diagnosis of Patau''s syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid. Prenat. Diag. 13:971-975, 1993. [PubMed: 8309903]
    46,XY,-14,+t(13q14q)de novo.
    Ultrasound abnormalities were noted at 32 weeks.
    Amniocytes were grown in lymphocyte culture medium.
    Index Terms: Abdominal wall defect
  • Same entry as in 8+ (Robinson et al, 1995).

  • Rodriguez J I, Garcia M, Morales C, Morillo A, Delicado A: Trisomy 13 syndrome and neural tube defects. AJMG 36:513-516, 1990. [PubMed: 2202219]
  • Saller D N, Jr, Canick J A, Blitzer M G, Palomaki G E, Schwartz S, Blakemore K J, Haddow J E.: Second-trimester maternal serum analyte levels associated with fetal trisomy 13. Prenat. Diag. 19:813-816, 1999. [PubMed: 10521837]
    28 cases were studied.
    The conclusion was that it is not possible to design a screening protocol for fetal trisomy 13 as part of second-trimester maternal screening.
  • Saller D N, Neiger R: Cytogenetic abnormalities among perinatal deaths demonstrating a single umbilical artery. Prenat. Diag. 14:13-16, 1994. [PubMed: 8183832]
    Index Terms: Single umbilical artery,Perinatal death
  • Schuring-Blom G H, Boer K, Knegt A C, Verjaal M, Leschot N J.: Trisomy 13 or 18 (mosaicism) in first trimester cytotrophoblast cells: false-positive results in 11 out of 51 cases. Europ. J. Obstet. Gynecol. Reprod. Biol. 101:161-168, 2002. [PubMed: 11858892]
    Schuring-Blom G H, Boer K, Leschot N J.: A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies. Europ. J. Hum. Genet. 9:286-290, 2001. [PubMed: 11313773]
    8 cases of 13+ were studied.
    6820 CVS cases were studied.
    Full trisomy 13 cases (n=13) mosaic (n=3). 1 false positive in full cases and 2 in mosaics.,Full trisomy 18 cases (n=30) mosaic (n=5. 5 false positive in full cases and 3 in mosaics.
    The diagnosis should be confirmed in other tissues, unless fetal abnormalities are seen at ultrasound. In case of mosaicism, follow-up amniocentesis is advised.
  • Siegle T A: Survival in Trisomy 13. Personal communication, 2005.
    She has some useful information to families with this condition.
    Ms. Siegle has a website:
    Index Terms: Long survival in trisomy 13
  • Singh K S T: Trisomy 13 (Patau''s syndrome): a rare case of survival into adulthood. J. Ment. Def. Res. 34:91-93, 1990. [PubMed: 2325123]
    Patient N.B. born on October 9, 1968.
    Factors contributing to long survival may have been: mosaicism at a lower level is possible, absence of any life threatening congenital abnormalities, family support, and availability of medical facilities.
    Index Terms: Prolonged survival
  • Sirchia S M, Garagiola I, Colucci G, Guerneri S, Lalatta F, Grimoldi M G, Simoni G.: Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism. Prenat. Diag. 18:201-206, 1998. [PubMed: 9556035]
    Case No. 5:
    CVS-Dir. (cytotrophoblasts)=mos47,XY,+13[3]/46,XY[22].,Amniotic fluid=46,XY[28].
    Markers used were: D13S128, D13S129, D13S133, and D13S137.
    Index Terms: CPM,UPD
  • Smith D W, Patau K, Therman E, Inhorn S L, De Mars R I: The D1 trisomy syndrome. J. Ped. 62:326-341, 1963. [PubMed: 13989383]
    Clinical description of the syndrome is provided by the original group who first described this condition.
    Index Terms: Patau syndrome (trisomy 13)
  • Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J, on behalf of the Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party.: The predictive value of findings of the common aneuploidies, trisomies 13, 18, and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study. Prenat. Diag. 19:817-826, 1999. [PubMed: 10521838]
    40 cases were studied.
    It was concluded that the highest level of predictive accuracy using cvs can only be achieved if both direct preparation and cell culture are performed. Also, amniocentesis or fetal blood sampling is recommended in case of mosaics.
  • Sperber G H, Honore L H, Machin G A: Microscopic study of holoprosencephalic facial anomalies in trisomy 13 fetuses. AJMG 32:443-451, 1989. [PubMed: 2773983]
    Four fetuses were studied.
    Index Terms: Holoprosencephaly
  • Same entry as in 13p112 (Takahashi et al, 1986).

  • Tamame T, Hori N, Homma H, Yoshida R, Inokuchi M, Kosaki K, Takahashi T, Hasegawa T.: Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13. AJMG DOI=10.1002/ajmg.a.30147; 129A:321-322, 2004. [PubMed: 15326637]
    Index Terms: Hyperinsulinemic hypoglycemia
  • Same entry as in 05p100 (Taylor, 1967).

  • Thilaganathan B, Meher-Homji N J, Nicolaides K H.: Maternal platelet size as a marker for fetal trisomies 18 and 13. Prenat. Diag. 15:605-608, 1995. [PubMed: 8532618]
    Increase in maternal platelet size may be of some value in 13+ and 18+ pregnancies.
    Index Terms: Platelet ... size
  • Tomoda K, Shea J J, Shenefelt R E, Wilroy R S, Jr: Temporal bone findings in trisomy 13 with cyclopia. Arch. Otolaryngol. 109:553-558, 1983. [PubMed: 6409065]
    Index Terms: Cyclop(ia)(s),Patau syndrome (trisomy 13)
  • Toth T, Findlay I, Papp C, Toth-Pal E, Marton T, Nagy B, Quirke P, Papp Z.: Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction. Prenat. Diag. 18:669-674, 1998. [PubMed: 9706647]
    Index Terms: Fluorescent PCR
  • Tuohy J F, James D K: Pre-eclampsia and trisomy 13. Brit. J. Obstet. Gynecol. 99:891-894, 1992. [PubMed: 1450137]
    25 cases were studied.
    The incidence of pre-eclampsia in pregnancies was significantly higher than the incidence in trisomy 18 and normal karyotypes.
    Index Terms: Preeclampsia
  • Valerio D, Altieri V, Antonucci F R, Aiello R. : Characterization of fetal haematopoietic progenitors circulating in maternal blood of seven aneuploid pregnancies. Prenat. Diag. 17:1159-1169, 1997. [PubMed: 9467814]
    Case 3:
    47,XX,+13 and 14/62 nuclei showed three signals.
    Post-amnio sampling was done.
    Index Terms: Fetal cells in circulating maternal blood
  • Vendola C, Canfield M, Daiger S P, Gambello M, Hashmi S S, King T, Noblin S J, Waller D K, Hecht J J.: Survival of Texas infants born with trisomies 21, 18, and 13. AJMG Part A: 152A: 360-366, 2010. [PubMed: 20082470]
    Index Terms: Survival of Texas infants with 13+, 18+, and 21+.
  • Wainwright H, Bowen R, Radcliffe M.: Lipoma of corpus callosum associated with dysraphic lesions and trisomy 13., 1995. [PubMed: 7645586]
    Patient died 5 minutes after delivery.
    Because of the clinical symptoms confirmation of trisomy 13 was obtained by the use of 13q14 cosmid probe on paraffin-embedded liver tissue.
    Index Terms: Lipoma, Corpus callosum, dysraphic lesions
  • Wallerstein R, Yu M-T, Neu R L, Benn P, Bowen C L, Crandall B, Disteche C, Donahue R, Harrison B, Hershey D, Higgins R R, Jenkins L S, Jackson-Cook C, Keitges E, Khodr G, Lin C C, Luthardt F W, Meisner L, Mengden G, Patil S R, Ridriguez M, Sciorra L J, Shaffer L G, Stetten G, Van Dyke D L, Wang H, Williams F, Zaslav A-L, Hsu L Y F.: Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations. Prenat. Diag. 20:103-122, 2000. [PubMed: 10694683]
    305 cases were reviewed.
    Repeat amniocentesis is not helpful.
  • Wax J R, Blakemore K J, Soloski M J, Gibson M, Stetten G: Fetal ascitic fluid: a new source of lymphocytes for rapid chromosomal analysis. Obstet. Gynecol. 80:533-535, 1992. [PubMed: 1495731]
    Index Terms: Ascitic fluid
  • Williamson R A, Weiner C P, Patil S R, Benda J, Varner M W, Abu-Yousef M M: Abnormal pregnancy sonogram: selective indication for fetal karyotype. Obst. Gynecol. 69:15-20, 1987. [PubMed: 3540760]
    13 out of 41 fetuses had chromosome anomalies. Only seven survived.
    Index Terms: Patau syndrome (trisomy 13)
  • Wilson R D, Chitayat D, McGillivray B C: Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year study. AJMG 44:586-590, 1992. [PubMed: 1481814]
    Index Terms: Fetal ultrasound
  • Wladimiroff J W, Stewart P A, Reuss A, Sachs E S: Cardiac and extra-cardiac anomalies as indicators for trisomies 13 and 18: a prenatal ultrasound study. Prenat. Diag. 9:515-520, 1989. [PubMed: 2671976]
    It is suggested that the combined appearance of cardiac and extra-cardiac anomalies should prompt fetal karyotyping.
  • Zelante L, Dallapiccola B: Umbilical cord pseudocyst in trisomy 13. Prenat. Diag. 9:448-449, 1989. [PubMed: 2668919]
    Index Terms: Umbilical cord pseudocyst
  • Zergollern L, Hitrec V, Muzinic D: Clinical and cytogenetic variations of Patau syndrome. J. Genet. Hum. 23:335-345, 1975. [PubMed: 1214146]
    Among 49,000 newborns 11 patients were trisomic for chromosome 13 (ratio of 1:4,500). Familial D/D translocation and free trisomic cases were found. Also see entry under 02q310.
    Index Terms: Patau syndrome (trisomy 13)
  • Zizka J, Balicek P: A patient with 13 trisomy syndrome and a case of Down''s syndrome in the large kindred of the same family. Suppl. Sborn. Lek. fak. Hradec Kralove 19:585-590, 1976. [PubMed: 147507]
    Case RJ290175(II-21) in this report.
    47,XX,+13.&A paternal niece had a child with trisomy 21(III-13)-47,XY,+21.
    Index Terms: Down syndrome (Trisomy 21),Patau syndrome (trisomy 13)
  • Zlotogora J, Eidelman A, Dudin A, Voss R: Microtia in infants with chromosomal trisomy. J. Craniofac. Genet. Develop. Biol. 8:205-206, 1988. [PubMed: 3209683]
    Case 2.
    Child died few days after birth.
    Index Terms: Microtia
  • Zoll B, Wolf J, Lensing-Hebben D, Pruggmayer M, Thorpe B: Trisomy 13 (Patau syndrome) with an 11-year survival. Clin. Genet. 43:46-50, 1993. [PubMed: 8462196]
    Missing cerebral and cardiovascular malformations may have allowed longer survival.
    Index Terms: Survival
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106522
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