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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 01p320 (Leonard and Tomkins, 2002).

  • Same entry as in 15p130 (Rajcan-Separovic et al, 2001).

  • Same entry as in Triploidy (Topalovski et al, 1995).

  • Same entry as in Moles (Fukunaga et al, 1996).

  • Aughton D J, Saal H M, Delach J A, Rahman Z U, Fisher D: Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review. Clin. Genet. 33:299-307, 1988. [PubMed: 3282728]
    The infant died two days after birth.
  • Baumer A, Dres D, Basaran S, Isci H, Dehgan T, Schinzel A.: Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy. Cytogenet. Genome Res. 101:5-7, 2003. [PubMed: 14571129]
    Rosenbusch B, Schneider M.: A brief look at the origin of tetraploidy. Cytogenet. Genome Res. 107:128-131, 2004. [PubMed: 15305068]
    The affected embryo was spontaneously aborted in the 8th week of gestation.
    Results show a maternal origin of one additional set of chromosomes most likely due to the incorporation of the polar body of meiosis I and a paternal origin of the second additional set of chromosomes most likely due to dispermy.
  • Bender S D, Dorfman A D, Schulman J D, Bustillo M: Tetraploidy and aneuploidy after observation of diploid fertilization in vitro. Fert. Ster. 52:1070-1071, 1989. [PubMed: 2591565]
  • Byrne J, Warburton D, Kline J, Blanc W, Stein Z: Morphology of early fetal deaths and their chromosomal characteristics. Teratology 32:297-315, 1985. [PubMed: 4049288]
  • Cavalcanti D P, Zanchetta L M.: Interphase-FISH study in three patients with tetraploid/diploid mosaicism. Europ. J. Med. Genet. 48:41-50, 2005. [PubMed: 15953405]
    Patient 1 (EPS)=46,XX/92,XXYY,Patient 2 (HXS)=46,XX/92,XXYY,Patient 3 (TFC)=46,XX/92,XXYY
    Dysmorphic features were present in all three, further analyses showed the mosaicism.
    All three patient showed only diploid cells in lymphocytes.
    Index Terms: FISH in 4n/2n mosaics
  • Coe S J, Kapur R, Luthardt F W, Rabinovitch P, Kramer D: Prenatal diagnosis of tetraploidy: a case report. AJMG 45:378-382, 1993. [PubMed: 8434628]
    Indications for cytogenetic study were abnormal ultrasound findings, maternal serum AFP and hCG. No mosaic cell lines were found including in situ preparations.
  • Dadhwal V, Deka D, Sharma A, Sharma Y, Bahadur A.: Tetraploidy mixoploidy presenting as refractory hydrops in a case of immune hemolytic anemia. Prenat. Diag. 27: 1262, 2007. [PubMed: 17994636]
    Amniotic fluid=92,XX[46%].,Cord blood=92,XX[72%].,Maternal lymphocytes=92,XX[20%].
    The spontaneously delivered newborn, at 29 weeks, died 2 hours later.
    Index Terms: Anemia immune hemolytic, refractory hydrops
  • Same entry as in 16+ (De et al, 1993).

  • Edwards M J, Park J P, Wurster-Hill D H, Graham J M, Jr: Mixoploidy in Humans: two surviving cases of diploid-tetraploid mixoploidy and comparison with diploid/triploid mixoploidy. AJMG 52:324-330, 1994. [PubMed: 7810564]
    Patient 1: S.P.
    Fibroblasts:92,XXXX,16qh+,16qh+(62%-31 cells)/46,XX,16qh+(38%-19 cells).
    Patient was 21 year-old with severe MCA.
    Patient 2: C.D.
    Blood:46,XX 20 cells.&Fibroblasts:mos46,XX(67%)/92,XXXX(33%).
    Patient was 11 years old with severe MR.
  • Same entry as in Triploidy (Genest et al, 1995).

  • Golbus M S, Bachman R, Wiltse S, Hall B D: Tetraploidy in a liveborn infant. J. Med. Genet. 13:329-332, 1976. [PMC free article: PMC1013427] [PubMed: 957384]
    92,XXYY.,The infant lived up to 51 weeks of age.
  • Guc-Scekic M, Milasin J, Stevanovic M, Stojanov L J, Djordjevic M.: Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies). Clin. Genet. 61:62-65, 2002. [PubMed: 11903358]
    The 26 month old patient, was studied because of dysmorphic features, growth retardation and generalized muscle hypotonia.
  • Same entry as in Triploidy (Hassold et al, 1978).

  • Hassold T J: A cytogenetic study of repeated spontaneous abortions. AJHG 32:723-730, 1980. [PMC free article: PMC1686106] [PubMed: 7424911]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Polyploidy,Tetraploidy
  • Same entry as in Triploidy (Kajii et al, 1977).

  • Kalousek D K, Barrett I J, Gartner A B: Spontaneous abortion and confined chromosomal mosaicism. Hum. Genet. 88:642-646, 1992. [PubMed: 1551667]
    Index Terms: Mosaicism
  • Kelly T E, Rary J M: Mosaic tetraploidy in a two-year-old female. Clin. Genet. 6:221-224, 1974. [PubMed: 4426137]
    Case E. M. (JHH No. 1482478) in this report.
  • Same entry as in Triploidy (Kleinebrecht et al, 1975).

  • Lafer C Z, Neu R L: A liveborn infant with tetraploidy. AJMG 31:375-378, 1988. [PubMed: 3068989]
    Multiple abnormalities were present in this 22 months old patient.
  • Same entry as in Moles (Lage et al, 1989).

  • Same entry as in Moles (Lawler S D et al, 1991).

  • Same entry as in 2+ (Ledbetter D H et al, 1992).

  • Lin C C, De Braekeleer M, Jamro H: Cytogenetic studies in spontaneous abortion: the Calgary experience. Canad. J. Genet. Cytol. 27:565-570, 1985. [PubMed: 4063875]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Polyploidy,Tetraploidy
  • Lopez-Pajares I, Delicado A, Diaz de Bustamante A, Pellicer A, Pinel I, Pardo M, Martin M: Tetraploidy in a liveborn infant. J. Med. Genet. 27:782-783, 1990. [PMC free article: PMC1017283] [PubMed: 2074564]
    Patient was 3 months old, growing poorly, and had multiple congenital anomalies.
  • McConnell H D, Carr D H: Recent advances in the cytogenetic study of human spontaneous abortions. Obst. Gynecol. 45:547-552, 1975. [PubMed: 1124170]
    69,XXY, 69,? (male), 92,XXXX and 92,XXYY karyotypes are reported here.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Polyploidy,Tetraploidy
  • Meiner A, Holland H, Reichenbach H, Horn L-Ch, Faber R, Froster U G.: Tetraploidy in a growth-retarded fetus with a thick placenta. Prenat. Diag. 18:864-865, 1998. [PubMed: 9742582]
    Amniotic fluid=92,XXYY[15].,Cord blood=mos92,XXYY/46,XY.
    At 19th week of pregnancy, growth retardation was noticed and confirmed at autopsy.
    Pregnancy terminated.
    Index Terms: Placenta thick
  • Same entry as in Triploidy (Minelli E et al, 1993).

  • Same entry as in 47,XXY (Moore et al, 1987).

  • Noomen P, van den Berg C, de Ruyter J L M, Van Opstal D, Los F J.: Prevalence of tetraploid metaphases in semidirect and cultured chorionic villi. Fetal Diag. Therapy 16:129-132, 2001. [PubMed: 11316926]
    A protocol has been developed strongly reducing the number of prenatal follow-up investigations.
  • Piquet C, Gamerre M, Levy A, Scheiner C, Philip N: Fetal karyotype from cystic hygroma fluid: diploid/tetraploid mosaicism. Prenat. Diag. 13:770-771, 1993. [PubMed: 8123164]
    46,XY-pleural cells/92,XXYY-cystic hygroma fluid.
    Pregnancy was terminated.
    Index Terms: Cystic hygroma fluid
  • Pitt D B, Leversha M A, Sinfield C, Campbell P, Anderson R, Bryan D, Rogers J: Tetraploidy in a liveborn infant with spina bifida and other anomalies. J. Med. Genet. 18:309-311, 1981. [PMC free article: PMC1048741] [PubMed: 7024547]
    Index Terms: Spina bifida
  • Quiroz E, Orozco A, Salamanca F: Diploid-tetraploid mosaicism in a malformed boy. Clin. Genet. 27:183-186, 1985. [PubMed: 3978853]
    mos46,XY,(32%,88%)/92,XXYY,(68%,12% respectively).
  • Roberts H E, Saxe D F, Muralidharan K, Coleman K B, Zacharias J F, Fernhoff P M.: Unique mosaicismn of tetraploidy and trisomy 8: clinical, cytogenetic, and molecular findings in a live-born infant. AJMG 62:243-246, 1996. [PubMed: 8882781]
    Amniotic fluid=92,XXYY(22 cells);cord blood=47,XY,+8(30 cells);peripheral blood=47,XY,+8;skin=47,XY,+8(6 cells)/92,XXYY(94 cells);placenta=47,XY,+8/92,XXYY/94,XXYY,+8,+8;amnion=47,XY,+8/92,XXYY;chorion=47,XY,+8.
    Hydrocephaly and a large cyst in the supratentorial region of the brain was seen at ultrasound examination at 27 weeks. The infant had MCA and died at 14 weeks.
  • Rojanasakul A, Gustavson K H, Lithell H, Nillius S J: Tetraploidy in two sisters with the polycystic ovary syndrome. Clin. Genet. 27:167-174, 1985. [PubMed: 3978852]
    MIM#: 184700
  • Sagot P, Nomballais M F, David A, Yvinec M, Beaujard M P, Barriere P, Boog G: Prenatal diagnosis of tetraploidy. Fetal Diag. Therapy 8:182-186, 1993. [PubMed: 8240691]
    Hydrocephalus was detected at 20 weeks. Fetal blood karyotyping was done at 22 weeks, when multiple malformations were noticed. Preganancy was terminated. Multiple malformations were found including bilateral cleft palate and lip, flexion and overlapping fingers.
    Index Terms: Hydrocephalus
  • Sanchez J M, Dubner M, Lopez de Diaz S, Vilaseco G.: A fetus with a 90,XX karyotype. Prenat. Diag. 19:178-179, 1999. [PubMed: 10215079]
    Mother was 21 years old and ultrasound at 20 weeks of amenorrhea, a large cystic hygroma and oligoamnios was found. Another ultrasound scan showed severe hydrops and fetal bradicardia. The fetus died in utero.
    Index Terms: 90,XX
  • Sheppard D M, Fisher R A, Lawler S D, Povey S: Tetraploid conceptus with three paternal contributions. Hum. Genet. 62:371-374, 1982. [PubMed: 7166315]
  • Shields L E, Serafini P C, Schenken R S, Moore C M: Chromosomal analysis of pregnancy losses in patients undergoing assisted reproduction. J. Assist. Reprod. Genet. 9:57-60, 1992. [PubMed: 1617252]
    Case 1:
    Case 4:
    Index Terms: Assisted reproduction
  • Shiono H, Azumi J I, Fujiwara M, Yamazaki H, Kikuchi K: Tetraploidy in a 15-month-old girl. AJMG 29:543-547, 1988. [PubMed: 3287924]
  • Sousa M d G F, Moreira L M d A, Freitas L M, Peixoxto L I d S, da Silva V R.: Report of a diploid:tetraploid live-born infant. Braz. J. Genet. 19:365-369, 1996.
    Patient F. F. S. born in 1987.
    Blood-mos46,XY in 318 cells/92XXYY in 10 cells.
    Patient died after 8 months and had MCA with mental and developmental retardation.
  • Surti U, Szulman A E, Wagner K, Leppert M, O''Brien S J: Tetraploid partial hydatidiform moles: two cases with a triple paternal contribution and a 92,XXXY karyotype. Hum. Genet. 72:15-21, 1985. [PubMed: 3002951]
    Vejerslev L O, Fisher R A, Surti U, Walke N: Hydatidiform mole: cytogenetically unusual cases and their implications for the present classification. Am. J. Obst. Gynecol. 157:180-184, 1987. [PubMed: 3474901]
  • Teyssier M, Gaucherand P, Buenerd A.: Prenatal diagnosis of a tetraploid fetus. Prenat. Diag. 17:474-478, 1997. [PubMed: 9178325]
    Amniotic fluid and Cord blood=92,XXYY
    Ultrasound findings detected IUGR and hydrocephalus and anato-pathological examination was conducted on the fetus at 32 weeks. The fetus had unusual facial appearance and MCA including large cerebral lateral ventricles, and abnormalities of lung, heart, and genitals.
  • Toth A, Szepesi J, Szigetvari I, Laszlo J: Direct chromosomal preparation for studying hydatidiform moles. Placenta 8:587-590, 1987. [PubMed: 3325969]
    Two cases were mosaic tetraploid.
    mos46,XY/92,XXYY or mos46,XX/92,XXXX.
    Index Terms: Hydatidiform mole
  • Urioste M, Pinel I, Gomar J L, Skinner C, Martinez-Frias M L: Diploid/tetraploid mosaicism in stillborn infant with Prune Belly anomaly. Ann. Genet. 33:49-51, 1990. [PubMed: 2195982]
    The stillborn infant had 32 weeks gestation.
    MIM#: 100100
    Index Terms: Prune belly syndrome
  • Veenema H, Tasseron E W K, Geraedts J P M: Mosaic tetraploidy in a male neonate. Clin. Genet. 22:295-298, 1982. [PubMed: 7160100]
    Patient died soon after birth.
  • Vekemans M J J, Perry T B: Cytogenetic analysis of chorionic villi: a technical assessment. Hum. Genet. 72:307-310, 1986. [PubMed: 3699820]
    Wilson G N, Vekemans M J J, Kaplan P: MCA/MR syndrome in a female infant with tetraploidy mosaicism: review of the human polyploid phenotype. AJMG 30:953-961, 1988. [PubMed: 3055989]
    Patient was 3 months old with unusual facial appearance, short neck with low posterior hairline, wide chest, valvular pulmonic stenosis, and abnormal fingernails.
    Case #84-10.
  • Wilkins-Haug L, Roberts D J, Morton C C.: Confined placental mosaicism and intrauterine growth retardation: a case-control analysis of placentas at delivery. Am. J. Obstet. Gynecol. 172:44-50, 1995. [PubMed: 7847559]
    2 cases of 92,XXXX and 1 of 92,XXYY in 2 cases of IUGR and one case of appropriate gestational age were found.
    Index Terms: Confined placental mosaicism, IUGR
  • Witters I, Legius E, Moerman Ph, Deprest J, Van Schoubroeck D, Timmerman D, Van Assche F A, Fryns J. P.: associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia. AJMG 103:278-282, 2001. [PubMed: 11746006]
    Left CDH, webbed neck.
    Index Terms: Diaphragmatic hernia
  • Wittwer B B, Wittwer H B: Information about diploid-tetraploid mosaicism in a six-year-old male. Clin. Genet. 28:567-568, 1985. [PubMed: 4075570]
    Patient, wifr111172, was 6 years old.
  • Wullich B, Henn W, Groterath E, Ermis A, Fuchs S, Zankl M: Mosaic tetraploidy in a liveborn infant with features of the DiGeorge anomaly. Clin. Genet. 40:353-357, 1991. [PubMed: 1756611]
    Index Terms: Di George syndrome,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106679
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