一名12岁患有卵巢早衰的女孩，核型为46,X,der(X)t(X;X)(q22.1;p11)，Xq22.1→Xqter 。
A case of 46,X,der(X)t(X;X)(q22.1;p11) Xq22.1-->Xqter in a 12-year-old girl with premature ovarian failure.
作者信息
Merhi Z O, Roberts J L, Awonuga A O
机构信息
Department of Obstetrics and Gynecology, Maimonides Medical Center, Brooklyn, NY 11219, USA.
出版信息
Gynecol Obstet Invest. 2007;63(3):137-9. doi: 10.1159/000096436. Epub 2006 Oct 19.
Premature ovarian failure due to Xp duplication and Xq deletion has been reported in four patients, the youngest of whom was 18 years old. The diagnosis has been made with new techniques for genetic analysis, such as comparative genomic hybridization and fluorescence in situ hybridization. We report the youngest case (a 12-year-old who presented with irregular menses), of premature ovarian failure due to Xp duplication and Xq deletion and the first with 46,X,der(X)t(X;X)(q22.1;p11). The diagnosis was made using C-banding and fluorescent in situ hybridization with locus-specific probes. This case highlights the need to use advanced genetic strategies to determine karyotypic and phenotypic abnormalities.
已有报道称，4名患者因Xp重复和Xq缺失导致卵巢早衰，其中最年轻的患者为18岁。诊断采用了比较基因组杂交和荧光原位杂交等新的基因分析技术。我们报告了最年轻的因Xp重复和Xq缺失导致卵巢早衰的病例（一名12岁月经不规律的患者），也是首例核型为46,X,der(X)t(X;X)(q22.1;p11)的病例。诊断采用C显带和位点特异性探针荧光原位杂交技术。该病例凸显了使用先进基因策略来确定核型和表型异常的必要性。
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