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Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature

✍ Scribed by Léonard, Claude ;Huret, Jean Loup ;Imbert, Marie-Claude ;Lebouc, Yves ;Selva, Jacqueline ;Boulley, Anne-Marie

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
401 KB
Volume
43
Category
Article
ISSN
0148-7299

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✦ Synopsis

We report on a case of dup(l6p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16~13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3: 1 in half of the cases, but these observations might be due to biases. The other chromosomes involved in the translocations as well as the breakpoints in these chromosomes do not appear to be random. o

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