2 CASES WITH DIFFERENT DELETIONS OF THE LONG ARM OF CHROMOSOME-7

被引:40
作者
KLEPDEPATER, JM
BIJLSMA, JB
BLEEKERWAGEMAKERS, EM
DEFRANCE, HF
DEVRIESEKKERS, CMAM
机构
[1] UNIV AMSTERDAM,DEPT HUMAN GENET,AMSTERDAM 1004,NETHERLANDS
[2] OBSERVAT CLIN DE EDERHORST,EDE,NETHERLANDS
关键词
D O I
10.1136/jmg.16.2.151
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Two mentally and physically retarded girls, one with an interstitial deletion (7pter→q21: :q32→qter), and the other with an interstitial deletion 7(pter→q11: :q22→qter), are described. Their clinical features are compared with those of 11 earlier reported cases with a deletion 7q. The Hageman factor, the locus of which is assigned to the distal part of 7q, was in both cases within normal limits. The data available do not justify the delineation of a specific clinical syndrome.
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收藏
页码:151 / 154
页数:4
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