PARTIAL MONOSOMY-8P WITH MINIMAL DYSMORPHIC SIGNS
PARTIAL MONOSOMY-8P WITH MINIMAL DYSMORPHIC SIGNS
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DOI：
10.1136/jmg.27.5.327
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发表时间：
1990-05-01
影响因子：
4
通讯作者：
BRONDUMNIELSEN, K
中科院分区：
文献类型：
--
作者：
BLENNOW, E;BRONDUMNIELSEN, K
本文报告一例46，XX，del（8）（p23-pter）核型的女性患者。她智力迟钝，并表现出一些畸形的特征。她的红细胞谷胱甘肽还原酶水平在正常范围内。这一末端缺失位于8号染色体的短臂上，似乎是迄今为止报道的最小片段。
A female patient with a 46,XX,del(8)(p23----pter) karyotype is presented. She was mentally retarded and showed a few dysmorphic features. Her red cell glutathione reductase level was within normal limits. This terminal deletion, on the short arm of chromosome 8, appears to be the smallest segment hitherto reported.