CLINICAL AND MOLECULAR-GENETIC FINDINGS IN 5 PATIENTS WITH MILLER-DIEKER-SYNDROME

被引：0
作者：
KOHLER, A
HAIN, J
MULLER, U
机构：
来源：
CLINICAL GENETICS | 1995年 / 47卷 / 03期
关键词：
CHROMOSOME; 17-D17S5-D17S379; LISSENCEPHALY; MILLER-DIEKER SYNDROME;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Five patients with type 1 lissencephaly, typical features of Miller-Dieker syndrome and apparently normal karyotypes were investigated for microdeletions in chromosome 17p13.3. Analysis of loci D17S5 and D17S379 by polymerase chain reaction and fluorescence in situ hybridization revealed a deletion in three cases. No deletion was observed in the remaining two cases. Given the almost identical clinical picture of the five patients, the great variation in the molecular findings argues against Miller-Dieker syndrome being a contiguous gene syndrome.
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页码：161 / 164
页数：4
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