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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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  • Baker E, Hinton L, Callen D F, Altree M, Dobbie A, Eyre H J, Sutherland G R, Thompson E, Thompson P, Woollatt E, Haan E.: Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. AJMG DOI=10.1002/ajmg.10159;107:285-293, 2002. [PubMed: 11840484]
    de Vries B B A, Winter R, Schinzel A, van Ravenswaaij-Arts C.: Telomeres: a diagnosis at the end of the chromosomes. J. Med. Genet. 40:385-398, 2003. [PMC free article: PMC1735506] [PubMed: 12807958]
    De Vries et al (2003) review the data on subtelomeric deletion syndromes quite extensively.
    Patient 2:
    46,XX.ish der(5)t(5;16)(q35.3;q24.3)pat(PAC240G13-,c372B12/c301F3+).
    The patient was 6 years old with positive family history.
    Three other paternal relatives were also carriers of the balanced translocation.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q-;16q+
  • Barber J C K, Temple I K, Campbell P L, Collinson M N, Campbell C M, Renshaw R M, Dennis N R.: Unbalanced translocation in a mother and her son in one of two 5;10 translocation families. AJMG 62:84-90, 1996. [PubMed: 8779332]
    Family 1:
    I-2:46,XY,t(5;10)(q35.3;q26.13); II-2:46,XX,der(10)t(5;10)(q35.3;q26.13)pat;,III-1:46,XY,der(10)t(5;10)(q35.3;q26.13)mat.
    The phenotype is milder in both the affecteds.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 5q+;10q-.
    Negative band
  • Hon E, Chapman C, Gunn T R.: Family with partial monosomy 10p and trisomy 10p. AJMG 56:136-140, 1995. [PubMed: 7625434]
    A twin (IV-6):46,XY,der(5)t(5;10)(q35.3;p12.31)mat.
    The fetus had a 2-vessel umbilical cord.
    Mother (III-3) and a brother (IV-1):46,XX and XY,t(5;10)(q35.3;p12.31).
    Propositus (IV-3): 46,XY,der(10),rcp(5;10)(q35.3;p12.31)mat.
    The propositus had severe psychomotor delay, growth failure, congenital heart defect, multicystic kidney, grade V vesicoureteric reflex, and neurosensory hearing loss.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 10p-;10p+
    Negative band
  • Maruri F.: Brief clinical report on a deletion 5q35.3. AJMG 56:327, 1995. [PubMed: 7778601]
    Stratton R F, Tedrowe N A, Tolworthy J A, Patterson R M, Ryan S G, Young R S: Deletion 5q35.3. AJMG 51:150-152, 1994. [PubMed: 8092192]
    46,XY,del(5)(q35.3)de novo.
    Initially detected at amniocentesis the 15 month old child has MCA and developmental delay.
    Citing this book the authors claim this patient to be a first case of de novo deletion of 5q35.3.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 5q-
    Negative band
  • McDonald M, Maynard S, Sheldon S, Innis J: "Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma." AJMG 49:288-293, 1994. [PubMed: 8209888]
    46,XX and XY,t(5;16)(q35.3;p13.3).,46,XY,der(16)t(5;16)(q35.3;p13.3).
    The proband had mental and growth retardation, minor anomalies, and a history of bilateral papillary thyroid carcinoma.
    The translocation was traced in this four generation family.
    Aberration: Reciprocal translocation
    MIM#: 188550
    Chromosomal Aneuploidy: 5q+,16p-
    Index Terms: Papillary thyroid carcinoma
    Negative band
  • Rauch A, Beese M, Mayatepek E, Dorr H-G, Wenzel D, Reis A, Trautmann U. : A novel 5q35.3 subtelomeric deletion syndrome. AJMG DOI=10.1002/ajmg.a.20173; 121A:1-8, 2003. [PubMed: 12900893]
    Patient 22-01:
    46,XX,del(5)(q35.3)de novo
    The infant was 3 years old with MCA.
    The size of deletion is about 3.5 Mb.
    Aberration: Interstitial deletion
    MIM#: 136352
    Chromosomal Aneuploidy: 5q-
  • Varela M, 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. 612.
    Aberration: Reciprocal translocation
    Negative band
  • Vogels A, Devriendt K, Vermeesch J R, Van Dael R, Marynen P, Dewaele P, Hageman J, Holvoet M, Fryns J-P.: Cryptic translocation t(5;18) in familial mental retardation. Ann. Genet. 43:117-123, 2000. [PubMed: 11164192]
    A 4-generation family with this reciprocal translocation and partial aneuploidy is described.
    46,XX and XY,t(5;18)(q35.3;q23).,46,XX and XY,der(18)t(5;18)(18pter->18q23::5q35.3->5qter)mat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q+;18q-
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106501
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