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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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  • Alvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo M A, Rivera T, Solanellas J, Moreno F.: Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin 26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients. J. Med. Genet. 40:636-639, 2003. [PMC free article: PMC1735568] [PubMed: 12920081]
    Two cases were found among 115 unrelated affected subjects who were homozygous for the 35delG mutation (1.7%).
    46,XX,UPD(13)(q12)mat with hearing impairment.
    The patients did not share any allele with their father.
    Aberration: Uniparental disomy
    MIM#: 121011
    Index Terms: GJB2
  • Bamforth J S, Lin C C.: DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q). AJMG 73:408-411, 1997. [PubMed: 9415466]
    mos46,XX/46,XX,-13,+del(13)(q12) in skin fibroblasts.,Blood chromosomes were normal.
    The patient was 8 years old with facial. hand , foot and scalp anomalies.
    It is suggested that the association of moasic chromosome abnormality and the DK phocomelia syndrome may be analogous to the Pallister-Killian syndrome and mosaic 12p tetrasomy.
    Aberration: Terminal deletion
    MIM#: 223340
    Chromosomal Aneuploidy: 13q-
    Index Terms: DK phocomelia (von Voss-Cherstvoy syndrome)
  • Same entry as in 01p210,05q150,07q110 (Boue and Gallano, 1984).

  • Chandley A C, Edmond P, Christie S, Gowans L, Fletcher J M, Frackiewicz A, Newton M S: Cytogenetics and infertility in man. 1. Karyotype and seminal analysis. Results of a five-year survey of men attending a subfertility clinic. Ann. Hum. Genet. 39:231-254, 1975. [PubMed: 1052767]
    Case K.L. (K242/43/73) in this report.
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    Negative band
  • Cohen M M, Rosen Y, Gadoth N, Tal A: "A homologous tandem translocation 45,XX,-13,-13,+t(13;13)(q12;q34)." Cytogenet. Cell Genet. 20:155-159, 1978. [PubMed: 648174]
    Kohn G, Cohen M M, Aronson M M, Greene A E, Coriell L L: "A 13;13 tandem chromosome translocation in a subject with congenital anomalies. Repository identification No. GM-2018." Cytogenet. Cell Genet. 24:72, 1979. [PubMed: 456042]
    45,XX,tan(13;13)(I13pter -> I13q34::II13q12 -> II13qter).&"45,XX,-13,-13,+t(13;13)(I13pter -> I13q34::II13q12 -> II13qter)."&The 28-month-old patient had congenital anomalies associated with mental and motor retardation.
    Aberration: Terminal rearrangements
    Index Terms: Motor retardation
    Negative band
  • Cotton C, Cummins M, Smith A: "Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13;18)(q12;q11) carrier." Clin. Genet. 44:193-195, 1993. [PubMed: 8261649]
    Jackson J, Robson L, Meagher S, Watson G, Smith A: "How accurate does rapid fetal karyotyping need to be? case of unbalanced t(13;18)." Prenat. Diag. 13:767-770, 1993. [PubMed: 8284295]
    46,XX,-13,+der(18),t(13;18)(18qter -> 18p11.2::13q12 -> 13qter)de novo.
    Karyotyping was performed on 1 ml of fetal blood specimen obtained at 33 weeks gestation. Ultrasound examination at that showed gross abnormalties indicating a genetic cause.
    A stillborn child was delivered at 36 weeks spontaneously.
    Mother:46,XX,t(13;18)(q12;q11).&"46,XY,-18,+der(13)t(13;18)(q12;q11)mat-3 of these."&"46,XX,-13,+der(18)t(13;18)(q12;q11)mat."&"47,XX,+der(13)t(13;18)(q12;q11)mat."
    One child (alternate segregation product), another died 22 minutes after birth, and all the five pregnancies were terminated after prenatal diagnosis with cvs.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 13q+,18q+,13q-,18q-
    Index Terms: Segregation
    Negative band
  • Dryja T P, Bruns G, Gallie B, Petersen R, Green W, Rapaport J M, Albert D M, Gerald P S: Low incidence of deletion of the esterase D locus in retinoblastoma patients. Hum. Genet. 64:151-155, 1983. [PubMed: 6885050]
    Howard R O, Breg W R, Albert D M, Lesser R L: Retinoblastoma and chromosome abnormality. Partial deletion of the long arm of chromosome 13. Arch. Ophthalmol. 92:490-493, 1974. [PubMed: 4433268]
    Patient 2.
    46,XY,del(13)(pter -> q12::q14 -> qter).
    Aberration: Interstitial deletion
    Index Terms: Retinoblastoma
    Negative band
  • Gencik A, Auf der Maur P, Gencikova A, Lutschg J: Retinoblastoma and chromosome 13 deletion. Helv. Paediat. Acta 37:457-464, 1982. [PubMed: 7161117]
    Two cases.
    Aberration: Interstitial deletion
    Index Terms: Retinoblastoma
    Negative band
  • Geormaneanu M, Geormaneanu C: Monosomie 13 proximale. Ann. Genet. 33:176-178, 1990. [PubMed: 2288464]
    Patient was 7 months old with multiple congenital anomalies.
    Aberration: Reciprocal translocation
    Negative band
  • Hermann R, Solt+¬sz G, Morava E, Kosztol+ínyi G, Czak+¦ M.: De novo partial duplication of long arm of chromosome 13: dup(13)(q12->q14). AJMG 92:296-297, 2000. [PubMed: 10842301]
    The 7 yo patient was referred for short stature and MR.
    46,XX,dup(13)(q12->q14)de novo
    Aberration: Duplication
  • Hoegerman S F: Chromosome 13 long arm interstitial deletion may result from maternal inverted insertion. Science 205:1035-1036, 1979. [PubMed: 472726]
    Sparkes R S, Muller H, Klisak I, Abram J A: Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q. Science 203:1027-1029, 1979. [PubMed: 424728]
    46,XX,inv(13)(q12q22).&46,XX,inv(13)(pter -> q12::q22 -> q12::q22 -> qter).&46,XX,del(13)(q14q22).&46,XX,del(13)(pter -> q14::q22 -> qter).&The deleted chromosome 13 in the 9-year-old girl is thought to be derived from the normal chromosome 13 in the mother. She had sporadic unilateral retinoblastoma and mental retardation.&The karyotype of the mother of the child reported by Sparkes et al (1979) is interpreted as having a 46,XX,inv ins(13)(pter -> q12::q22 -> q14::q12 -> q14::q22 -> qter).
    Aberration: Inverted insertions within a chromosome
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • Hoo J J, Koch M, Ziemsen B, Foerster W, Nishigaki I: Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14. Hum. Genet. 60:276-277, 1982. [PubMed: 7106760]
    Patient 1.
    46,XY,del(13)(q12 -> q21).
    Aberration: Interstitial deletion
    MIM#: 133280
    Negative band
  • Kajii T, Meylan J, Mikamo K: Chromosome anomalies in three successive abortuses due to paternal translocation, t(13q-18q+). Cytogenet. Cell Genet. 13:426-436, 1974. [PubMed: 4477981]
    46,XY,t(Dq-;18q+).&"47,XX,t(13q-;18q+)+18."&"47,XX,rec der(13;18)(q12;q21)pat+18."
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Mangelschots K, Van Roy B, Speleman F, Van Roy N, Gheuens J, Beuten J, Buntinx I, Van Thienen M N, Willekens H, Dumon J, Ceulemans B, Willems P J: Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis. Hum. Genet. 89:407-413, 1992. [PubMed: 1352272]
    Cases 1 and 2 were siblings.
    Aberration: Reciprocal translocation
    Index Terms: FISH
    Negative band
  • Michalova K, Kloucek F, Musilova J: Deletion of 13q in two patients with retinoblastoma, one probably due to 13q- mosaicism in the mother. Hum. Genet. 61:264-266, 1982. [PubMed: 7173873]
    Case 1.
    Case 2.
    Mother of case 2.
    Aberration: Interstitial deletion
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • Mikkelsen M, Basli A, Poulsen H: Nucleolus organizer regions in translocations involving acrocentric chromosomes. Cytogenet. Cell Genet. 26:14-21, 1980. [PubMed: 7371429]
    46,XX,rcp t(13;15)(q12;p11).
    Aberration: Reciprocal translocation
    Negative band
  • Moedjono S J, Sparkes R S: "Partial trisomy of 13(pter to q12) due to 47,XY,+der(13),t(13;22)(q12;q13)mat." Hum. Genet. 50:241-246, 1979. [PubMed: 489007]
    46,XX,t(13;22)(q12;q13).&J.D., 36 month old boy had short stature, short neck, shield-shaped chest, and mental retardation. See report by Sparkes et al(1980) cited under 13q140.&"47,XY,+der(13),t(13;22)(q12;q13)mat."
    Aberration: Simple translocation
    Index Terms: Chest ... shield,Neck ... short,Stature ... short (low)
    Negative band
  • Nakagome Y, Suzuki Y: "Reply to the letter of Prieto et al concerning our paper on a case of 13q;18q translocation." Hum. Genet. 53:283, 1980. [PubMed: 7358396]
    Suzuki Y, Ono K, Oka S, Matsubara T, Arima M, Nakagome Y: "A case of (13q;18q) translocation with proximal 13q monosomy." Hum. Genet. 38:337-341, 1977. [PubMed: 914281]
    45XX,-13,-18,+t(13;18)(q12;q23).&"45,XX,-13,-18,+t(13;18)(18pter -> 18q23::13q12 -> 13qter)."&The parents of this 6 year old mentally retarded girl showed normal karyotypes. Other characteristics were high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris.&"See report by Prieto et al (1977) under 13q110. CBG staining showed one dark spot on the translocated 13q;18q chromosome."
    Aberration: Simple translocation
    Index Terms: Clitoris ... large,Epicanthal folds,Eye ... antimongoloid,Palate ... high arched
    Negative band
  • Nielsen K B, Dyggve H V, Knudsen H, Olsen J: A chromosomal survey of an institution for the mentally retarded. Danish Med. Bull. 30:5-13, 1983. [PubMed: 6831943]
    Case No. 278-75.
    Aberration: Reciprocal translocation
    Negative band
  • Niermeijer M F, Sachs E S, Jahodova M, Tichelaar-Klepper C, Kleijer W J, Galjaard H: Prenatal diagnosis of genetic disorders. J. Med. Genet. 13:182-194, 1976. [PMC free article: PMC1013391] [PubMed: 58990]
    45,XX,-13,t(13;22)(q12;q13).&"45,XX,-13,t(13;22)(22pter -> 22q13::13q12 -> 13qter)."&"46,XY,-13,+der(22)t(13;22)(q12;q13)mat."&This 1950 g. male child died on the second day of life, was essentially trisomic for chromosome 22.
    Aberration: Tandem translocation
    Negative band
  • Otto P G, Toledo S P A, Richieri-Costa A, Otto P A, Vianna-Morgante A M, Kasahara S: Partial monosomy 13 and 21 due to a familial 13/21 translocation. Hum. Genet. 41:243-250, 1978. [PubMed: 649151]
    46,XX,der(13)der(21)(q12;q22)? (derivation not known).&46,XX and XY,der(13)(13pter -> 13q12::21q22 -> 21qter)der(21)(21pter -> 21q22::13q12 -> 13qter).&Depending on breakpoints within the bands, ie 13q12 and 21q22, ie proximal or distal, patients who are first cousins are monosomic for portions of chromosome 13 and 21. They were 14 and 31 years old and features were mental retardation, low stature, microcephaly, facial asymmetry, skull/face disproportion (with face predominance), ptosis, arched palate, lordosis, and scoliosis.
    Aberration: Reciprocal translocation
    Index Terms: Face ... asymmetric (hemi hypertrophy),Lordosis,Microcephaly,Palate ... high arched,Ptosis,Scoliosis,Stature ... short (low)
    Negative band
  • Pena S D J, Ray M, McAlpine P J, Ducasse C, Briggs J, Hamerton J L: Tertiary trisomy 14: Is there a syndrome? BD-OAS XII(No. 5):113-118, 1976. [PubMed: 953210]
    Ray M, Hunter A G W, Sachdeva R K, Christie N: "Partial trisomy 14 with a 46,XY,-13,+der(14),t(13;14)(q12;q22)mat karyotype." Ann. Genet. 22:47-49, 1979.
    One subject in this report.
    Two subjects in this report.
    46,XX,-13,+der(14)t(13;14)(q12;q22)mat.&The patient had a characteristic facies, a ventricular septal defect, minor abnormalities of the hands and syndactyly and hypoplasia of several toes.
    Aberration: RT,TR
    Index Terms: Face ... anomalies,Hand ... anomalies,Toes ... hypoplasia,Syndactyl(y)(ia)
    Negative band
  • Perez-Castillo A, Martin-Lucas M A, Abrisqueta J A: "Duplication 16q12 to qter arising from 3:1 segregation in a 46,XX,t(13;16)(q12;q12) mother." Ann. Genet. 33:121-123, 1990. [PubMed: 2241087]
    46,XX,t(13;16)(q12;q12).&"47,XX,+der(16),t(13;16)(16pter -> 16q12:::13q12 -> 13qter)mat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 16q+
    Negative band
  • Petit P, Fryns J P: Interstitial deletion of 13q associated with retinoblastoma and congenital malformations. Ann. Genet. 22:106-107, 1979. [PubMed: 315199]
    46,XX,del(13)(pter -> q12::q22 -> qter).&Karyotypes of both parents were normal. At age 5 months the eye abnormality was noticed.
    Aberration: Interstitial deletion
    Index Terms: Eye ... anomalies,Retinoblastoma
    Negative band
  • Pettersen J C: Anatomical studies of a boy trisomic for the distal portion of 13q. AJMG 4:383-400, 1979. [PubMed: 539604]
    46,XX,t(13;22)(q12;p11).&"46,XX,t(13;22)(13pter -> 13q12::22p11 -> 22pter;22qter -> 22p11::13q12 -> 13qter)."
    Patient, MW101168, died at 6 years of age. The comparison of partial 13q trisomy with complete 13 trisomy showed that it did not correspond well to a muscle phenotype. Detailed autopsy report is included.
    Aberration: Reciprocal translocation
    Negative band
  • Riccardi V M, Holmquist G P: De novo 13q paracentric inversion in a boy with cleft palate and mental retardation. Hum. Genet. 52:211-215, 1979. [PubMed: 511176]
    46,XY,inv(13)(q12q22).&Both parents had normal karyotypes. The relationship between the phenotype of the proband and his inv(13) is unclear.
    Aberration: Inversion paracentric
    Index Terms: Cleft lip/palate
    Negative band
  • Rosenberg C, Blakemore K J, Kearns W G, Giraldez R A, Escallon C S, Pearson P L, Stetten G: Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique. AJHG 50:700-705, 1992. [PMC free article: PMC1682652] [PubMed: 1550115]
    Case 1.
    46,XX,t(13;14)(q12;q24).&"46,XY,-13,+der(14)t(13;14)(14pter -> 14q24::13q12 -> 13qter)mat."
    The pregnancy was terminated.
    Only one chromosome library was suitable for detecting the translocation.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 14+
    Index Terms: Chromosome specific paints CSP
    Negative band
  • Smith J L, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 1004.
    Aberration: Reciprocal translocation
    Negative band
  • Smith M, Woodroffe A, Smith R, Holguin S, Martinez J, Filipek P A, Modahl C, Moore B, Bocian M E, Mays L, Laulhere T, Flodman P, Spence M A.: Molecular genetic delineation of a deletion of chromosome 13q12->q13 in a patient with autism and auditory processing deficits. Cytogenet. Genome Res. 98:233-239, 2003. [PubMed: 12826745]
    46,XY,del(13)(q12q13)de novo
    When evaluated at 3 years and 8 months, he had many single words.
    The 9-Mb region deleted contains at least four genes: NBEA, MAB21L1, DCAMKL1, and MADH9.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 13q-
    Index Terms: Autis(m)(tic),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Walbaum R, Francois P, Farriaux J P, Woillez M: Un cas de retinoblastome bilateral avec monosomie 13 partielle (q12 to q14). Hum. Genet. 44:219-226, 1978. [PubMed: 730167]
    46,XX,-13,+der(13)(pter -> q12::q14 -> qter).&A partial monosomy 13 by interstitial deletion was found in the complement of a girl with mild mental retardation and bilateral retinoblastoma. It is suggested that the deletion common to patients with retinoblastoma may be band 13q14. The most likely pathogenic hypothesis seems to be the haplo-insufficiency.
    Aberration: Interstitial deletion
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • Same entry as in 01q210,03p250,04q350,11p150 (Warburton D, 1991).

  • Wilson M G, Ebbin A J, Towner J W, Spencer W H: Chromosomal anomalies in patients with retinoblastoma. Clin. Genet. 12:1-8, 1977. [PubMed: 891004]
    Patient 3,DA,7 1/2 years old in this report. See report by Sparkes et al (1980) cited under 13q140.
    46,XY,del(13)(q12q14).&46,XY,del(13)(pter -> q12::q14 -> qter).
    Aberration: Interstitial deletion
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
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