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TRISOMY-16P IN A LIVEBORN OFFSPRING DUE TO MATERNAL TRANSLOCATION T(16 21)(Q11 P11) AND REVIEW OF THE LITERATURE

被引：34
作者：
LEONARD, C
HURET, JL
IMBERT, MC
LEBOUC, Y
SELVA, J
BOULLEY, AM
机构：
[1] CHU BICETRE,CYTOGENET LAB,F-94270 LE KREMLIN BICETR,FRANCE
[2] CHU POITIERS,CYTOGENET LAB,F-86021 POITIERS,FRANCE
[3] HOP ANTOINE BECLERE,CLAMART,FRANCE
[4] CHU NECKER ENFANTS MALAD,F-75730 PARIS 15,FRANCE
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 03期
关键词：
DUP(16P); CHROMOSOME-16; CHROMOSOME-21; HUMAN;
D O I：
10.1002/ajmg.1320430324
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 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.
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页码：621 / 625
页数：5
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