RING CHROMOSOME-6 - CASE-REPORT AND REVIEW OF LITERATURE

被引:24
作者
KINI, KR
VANDYKE, DL
WEISS, L
LOGAN, MS
机构
[1] HENRY FORD HOSP,DEPT PEDIAT,DETROIT,MI 48202
[2] HENRY FORD HOSP,DEPT PATHOL,DETROIT,MI 48202
关键词
D O I
10.1007/BF00390235
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A ring chromosome 6 has been identified by GTG-banding in a male with microcephaly, growth retardation, seizures, epicanthus, hypertelorism, micrognathia, and other congenital anomalies. Cytogenetic studies indicate the instability of the ring chromosome. The most common findings in subjects with ring 6 include: profound to moderate mental retardation, microcephaly, prenatal growth failure, retarded bone age, epicanthal folds, flat nasal bridge, short neck, ears low-set or malformed, microphthalmia, and micrognathia. Linkage studies, including HLA, are consistent with reported maps of chromosome 6. © 1979 Springer-Verlag.
引用
收藏
页码:145 / 149
页数:5
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