Down syndrome in two siblings with 47,XY,+21 and 46,XY/46,XY,-21,+t(21q;21q)

Down syndrome in two siblings with 47,XY,+21 and 46,XY/46,XY,-21,+t(21q;21q)

This is the first report in the literature of siblings affected with Down syndrome; one sibling had a nondisjunction of chromosome 21 and the other a (21q;21q) translocation.

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Bibliographische Detailangaben
Veröffentlicht in:Human genetics 1987-01, Vol.75 (1), p.97-97
Hauptverfasser: Der Kaloustian, V M, Masri, R, Khudr, A, Talj, F, Libbus, B, Nabulsi, M, Khouri, F P
Format: Artikel
Sprache:eng
Schlagworte:
Chromosomes, Human, Pair 21
Down Syndrome - genetics
Humans
Male
Nondisjunction, Genetic
Translocation, Genetic
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Beschreibung
Zusammenfassung:This is the first report in the literature of siblings affected with Down syndrome; one sibling had a nondisjunction of chromosome 21 and the other a (21q;21q) translocation.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00273853