PARTIAL TRISOMY 6P

被引：30
作者：
BERNHEIM, A
BERGER, R
VAUGIER, G
THIEFFRY, JC
MATET, Y
机构：
[1] HOP ST LOUIS,CTR G HAYEM,INST RECH MALAD SANG,CYTOGENET LAB,F-75475 PARIS 10,FRANCE
[2] CTR HOSP REG ORLEANS,DEPT HEMATOL,ORLEANS,FRANCE
[3] CTR HOSP REG ORLEANS,MAISON ENFANCE,ORLEANS,FRANCE
来源：
HUMAN GENETICS | 1979年 / 48卷 / 01期
关键词：
D O I：
10.1007/BF00273268
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A case of trisomy 6p21→6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been due to partial 2p monosomy. Comparison with seven other cases of trisomy 6p allowed the delineation of a clinical entity. Direct proof of the localization of HLA genes was given by the presence of three haplotypes in the index patient. © 1979 Springer-Verlag.
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页码：13 / 16
页数：4
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