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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Aviv H, Lieber C, Yenamandra A, Desposito F.: Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22. AJMG 70:399-403, 1997. [PubMed: 9182781]Individual III-9, had Down syndrome, and the family was worked-up.Proband=46,XY,der(22)t(21;22)(22qter->22q13.3::22q12.2->22q13.3::22p13->22q12.2::21q21.2->21qter)mat.,Mother, grandmother and an aunt:45,XX,t(21;22)(22qter->,22q13.3::22q12.2->22q13.3::22p13->22q12.2::21q21.2->21qter).,A brother of the proband=45,XY,der t(21;22)mat.The patient was 10 months old with MCA and developmental delays.FISH studies were informative with regard to the breakponts identification on 22.Aberration: ST,IP,PIChromosomal Aneuploidy: 21q-
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