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Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother

✍ Scribed by Fujimoto, Atsuko ;Lin, Ming S. ;Korula, Shirley R. ;Wilson, Miriam G. ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
584 KB
Volume
22
Category
Article
ISSN
0148-7299

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3:1 Meiotic disjunction in a mother with
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## Abstract We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndr

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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.