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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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  • Gatrad A R: Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome. J. Med. Genet. 18:148-151, 1981. [PMC free article: PMC1048691] [PubMed: 6453997]
    Patient was 5 years old. Both parents had normal karyotypes.
    mos 46,X,+21(74%)/47,XX,+21(26%).
    Index Terms: Dislocation ... knee,Down syndrome (Trisomy 21),Turner syndrome
  • Ikonen R S, Lindlof M, Janas M O, Simola K O J, Millington-Ward A M, de la Chapelle A: Coincident maternal meiotic nondisjunction of chromosomes X and 21 without evidence of autosomal asynapsis. Hum. Genet. 83:235-238, 1989. [PubMed: 2571561]
    The phenotype was that of Turner & Down syndromes. Patient was 5 years old.
  • MacFaul R, Turner T, Mason M K: Down''s/Turner''s mosaicism. Double aneuploidy as a rare cause of missed prenatal diagnosis of chromosomal abnormality. Arch. Dis. Childhood 56:962-963, 1981. [PMC free article: PMC1627494] [PubMed: 6460476]
    At amniocentesis these two cases were erroneously interpreted as 46,XY. At birth they were correctly classified as Down''s and Turner''s examples with 46,X,+21 karyotype.
    Case 1.
    Case 2.
    mos46,X,+21/47,X,iso X,+21.&See comments in Sulica et al, (1974) under 0Y0000 with regards to proper identification of the Y chromosome.
    Index Terms: Down syndrome (Trisomy 21),Turner syndrome
  • Rogers R C, Phelan M C, Pulliam L, Albiez K: Double aneuploidy. Proc. Greenwood Genet. Ctr. 5:49-57, 1986.
    Four cases are reported with varying degrees of mosaicism in different tissues.
  • Singh D N, Osborne R A, Hennigar G R, Barnett C D: Mosaic double aneuploidy of X and G chromosomes. Am. J. Ment. Defic. 79:644-647, 1975. [PubMed: 125038]
  • Townes P L, White M R, Stiffler S J, Goh K O: Double aneuploidy. Turner-Down syndrome. AJDC 129:1062-1065, 1975. [PubMed: 127528]
    Index Terms: Down syndrome (Trisomy 21),Turner syndrome
  • Vignolo M, Naseli A, Besio B, Vianello M G: Double aneuploidy with 45,X/46,X,+21/47,XX,+21 mosaicism and shaded features of Turner''s and Down''s syndromes. Riv. Ital. Ped. 13:698-701, 1987.
    Stefania S. was 9.6 years old.
    Index Terms: Down syndrome (Trisomy 21),Turner syndrome
  • Yeung C Y, Yang L: Down''s syndrome with XO/XY mosaicism. Acta Paed. Scand. 65:391-395, 1976. [PubMed: 5841]
    46,X,+21/47,XY,+21.&Six of 50 cells had the 46 chromosome makeup. Exploratory laparotomy (at seven months) showed no internal female organs. Gonadal biopsy revealed testicular tissue.
    Index Terms: Down syndrome (Trisomy 21)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106569
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