Halpern G J, Shohat M, Merlob P
Department of Medical Genetics, Beilinson Medical Center, Petah Tiqva, Israël.
Ann Genet. 1996;39(3):181-3.
We describe a postterm female infant with multiple anomalies who had trisomy 10q23.1-->10q26. The patient had an unbalanced translocation inherited from her father who is a balanced carrier with the karyotype 46,XY,t (10;13) (q23.1;q34). In addition to the recognized features of trisomy 10q syndrome, our patient demonstrated certain specific abnormalities which have not been previously described in this syndrome. These were bilateral large pterion, bilateral small asterion, clitoromegaly, and complete absence of the hymen. In most previously described cases of trisomy 10q, the duplicated section started at 10q24. It is suggested that the additional features in this patient may be attributed to the extra duplicated chromosomal material in 10q23.1-->10q24.
我们描述了一名患有多种异常的过期产女婴，其存在10q23.1至10q26三体。该患者有一条不平衡易位染色体，遗传自她的父亲，其父亲是一名核型为46,XY,t(10;13)(q23.1;q34)的平衡携带者。除了10q三体综合征的公认特征外，我们的患者还表现出一些该综合征此前未被描述过的特定异常。这些异常包括双侧大翼点、双侧小星点、阴蒂肥大以及处女膜完全缺失。在大多数先前描述的10q三体病例中，重复片段始于10q24。提示该患者的额外特征可能归因于10q23.1至10q24额外的重复染色体物质。
