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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-.

Cover of Chromosomal Variation in Man

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

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02q230

2q23
  • Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin M R, Guitart M, The EUROSCAN Working Group.: Prenatal detection of rare chromosomal autosomal abnormalities in Europe. AJMG DOI=10.1002/ajmg.a.10104; 118A:319-327, 2003. [PubMed: 12687662]
    t(2;4)(q23;q31).
    At 18 weeks, multicystic renal dysplasia was detected by ultrasound. Potter sequence was noted at termination of pregnancy.
    Aberration: Reciprocal translocation
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(2;12)(q23;q13); t(2;17)(q23;q12); inv(2)(q23q31).
    Aberration: IP,RT
    Negative band
  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    46,XX,t(2;8)(q23;p11).&"46,XX,t(2;9)(q23;p24)."
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case Ia-9 of Richkind 90031500.
    mos46,XY/46,XY,t(2;4)(q23;q24)(2.3%).
    Normal liveborn male.
    Aberration: Reciprocal translocation
    Negative band
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    M. R. C. Registry No. 119-109-71 in this report.
    46,XY,t(2;15)(q23;q21).
    Aberration: Simple translocation
    Negative band
  • Jamshidi N, Macciocca I, Dargaville P A, Thomas P, Kilpatrick N, McKinlay Gardner R J, Farlie P G.: Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation. J. Med. Genet. 41:e1, 2004. [PMC free article: PMC1757243] [PubMed: 14729841]
    Proband (III-1)=46,XX,t(2;17)(q23;q23.3)pat.
    All other family members with isolated RS had the translocation:I:2, II:1, II:8, II:9, III:6; but in none of the unaffected family members who was tested.
    Aberration: Reciprocal translocation
    Index Terms: Robin sequence
  • Johnson M C, Hing A, Wood M K, Watson M S.: Chromosome abnormalities in congenital heart disease. AJMG 70:292-298, 1997. [PubMed: 9188669]
    Case 16:
    46,XX,t(2;6)(q23;q22)
    Anomalies included AVC.
    Aberration: Reciprocal translocation
    Index Terms: Congenital heart disease
  • 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]
    46,XY,t(2;15)(q23;q26)de novo.
    Aberration: Reciprocal translocation
    Negative band
  • Lu P Y, Hammitt D G, Zinsmeister A R, Dewald G W: "Dual color fluorescence in situ hybridization to investigate aneuploidy in sperm from 33 normal males and a man with a t(2;4;8)(q23;q27;p21)." Fert. Steril. 62:394-398, 1994. [PubMed: 8034090]
    46,XY,t(2;4;8)(q23;q27;p21).
    Patient was borderline oligospermic. 940 sperm were scored. Frequency of chromosome 4 aneuploidy was 2% disomy and 1.3% nullisomy and of chromosome 8 was 2.7% disomy and 2.1% nullisomy. For chromosome 12, 1,849 sperm were scored and 0.2% aneuploidy was seen.
    Aberration: Complex translocation
    Index Terms: FISH ... in sperm
    Negative band
  • Madan K, Nieuwint A W M, van Bever Y.: Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum. Genet. 99:806-815, 1997. [PubMed: 9187678]
    46,XX,t(2;3;8)(2pter->2q23::3q13.2->3qter;3pter->3q13.2::2q23->2q33::8q13->8qter;8pter->8q13::2q33->2qter).,Proband-46,XY,der(2),rec(3)(3pter->3q13.2::2q23->2qter)t(2;3;8)(2pter->2q23::3q13.2->3qter;3pter->3q13.2::2q23->2q33::8q13->8qter;8pter->8q13::2q33->2qter)mat.
    The translocation was found to be present in three generations.
    Aberration: Complex translocation
    No band
  • McManus S, de Arce M A: Cytogenetics of recurrent spontaneous aborters. Irish J. Med. Sci. 155:216-220, 1986. [PubMed: 3744746]
    46,XX,t(2;7)(q23;q34).
    Aberration: Simple translocation
    Negative band
  • Palmer C, 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. 268.
    46,XY,t(2;15)(q23;q26)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Shabtai F, Klar D, Halbrecht I: Partial monosomy of chromosome 2. Delineable syndrome of deletion 2 (q23 to q31). Ann. Genet. 25:156-158, 1982. [PubMed: 6982665]
    Patient was 20 years old. Parental karyotypes were normal.
    mos46,XX/46,XX,del(2)(pter -> q23::q31 -> qter).
    Aberration: Interstitial deletion
    Negative band
  • Sikkema-Raddatz B, Sijmons R H, Tan-Sindhunata M B, van der Veen A Y, Brunsting R, de Vries B, Beekhuis J R, Bekedam D J, van Aken B, de Jong B.: Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case. Prenat. Diag. 15:467-473, 1995. [PubMed: 7644437]
    Case 2:
    46,XY,t(2;5;18)(2pter->2q23::18q21.3->18qter;5pter->5q22::2q33->2q35::5q22->5qter;18pter->18q21.3::2q23->2q33::2q35->2qter)de novo.
    Normal growth and development was seen at 3 years of age.
    Aberration: Complex translocation
    Negative band
  • Subrt I: Reciprocal translocation with special reference to reproductive failure. Hum. Genet. 55:303-307, 1980. [PubMed: 7203462]
    Case 3:46,XY,t(2;18)(q23;qter).
    46,XY,der(2)der(18)t(2;18)(q23;qter)pat.
    Aberration: Simple translocation
    Negative band
  • Vivarelli R, Zuffardi O, Maraschio P, Anichini C, Scarinci R: "A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20." Hum. Genet. 79:385-388, 1988. [PubMed: 3410463]
    Patients B.A., B.M.(mother), and A.P.(grandmother).
    46,XX,t(2;7)(2pter->2q23::7p15->7pter;2qter-> 2q23::,7q112->7qter),t(5;20)(5pter->5q11::20q11->20qter;,20pter->20q11:: 5q11->5qter).
    Aberration: Reciprocal translocation
    Negative band
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,XX,inv(2)(q23q31).
    Aberration: Inversion paracentric
    Negative band
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,XX,t(2;5)(q23;q31).&"46,XX,t(2;16)(q23;q21)."&"46,XX,t(2;17)(q23;q23)."
    Aberration: Reciprocal translocation
    Negative band
  • Zaletajev D V, Marincheva G S, Tsvetkova T G: De novo translocation involving chromosomes 2, 8, and 20. J. Med. Genet. 21:231, 1984. [PMC free article: PMC1049276] [PubMed: 6748024]
    46,XY,t(2;8;20)(2pter -> 2q23::20q11.2 -> 20qter;8pter -> 8q22::2q23 -> 2qter;20pter -> 20q11.2::8q22 -> 8qter).
    Aberration: Complex translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107143
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