Del (X)(p21.2) in a mother and two daughters with variable ovarian function.
Del (X)(p21.2) in a mother and two daughters with variable ovarian function.
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Del (X)(p21.2) 患有卵巢功能可变的母亲和两个女儿。
DOI：
10.1111/j.1399-0004.1997.tb02554.x
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发表时间：
1997
影响因子：
3.5
通讯作者：
Tonk,V
中科院分区：
文献类型：
--
作者：
Zinn,AR;Ouyang,B;Ross,JL;Varma,S;Bourgeois,M;Tonk,V
我们报告了一个家系，其中一位具有镶嵌核型45，X/46，X，del(X)(p21.2)的妇女将缺失的X染色体传递给两个女儿。荧光原位杂交(FISH)证实了该缺失的性质。所有三个家庭成员都表现出乌尔里希-特纳综合征的躯体特征，但只有一个女儿有卵巢衰竭。这些观察结果对Ullrich-Turner综合征的诊断和X染色体缺失的基因/表型相关性具有重要意义。
We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescentin situhybridization (FISH). All three family members showed somatic Ullrich‐Turner syndrome features, but only one daughter had ovarian failure. These observations have implications for the diagnosis of Ullrich‐Turner syndrome and genotype/phenotype correlations of X chromosome deletions.