Familial Turner phenotype.
Familial Turner phenotype.
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家族特纳表型。
DOI：
10.1016/s0022-3476(69)80009-0
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发表时间：
1969
期刊：
影响因子：
--
通讯作者：
S. Temtamy
中科院分区：
文献类型：
--
作者：
E. Abdel;S. Temtamy
两个男性同胞，第一堂兄弟姐妹之间的婚姻的后代，被发现有特纳表型。一个已故的女性同胞，没有研究，也可能有同样的综合征。在2个雄性同胞中未检测到染色体异常或生化缺陷。本报告支持常染色体突变的纯合性可能是特纳综合征临床特征的原因之一的观点。
Two male sibs, the offspring of a marriage between first cousins, were found to have the Turner phenotype. A deceased female sib, not studied, may also have had the same syndrome. No grass chromosomal abnormalities or biochemical defects could be detected in the 2 studid male sibs. The present report supports the view that homozygosity for an autosomal mutation could be one of the causes of the clinical features of the Turner syndrome.