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13号染色体间质性缺失:一种新综合征?(作者译)

[Interstitial deletion of a chromosome nr. 13: a new syndrome? (author's transl)].

作者信息

Weisswichert P, Stögmann W

出版信息

Klin Padiatr. 1979 May;191(3):318-24.

PMID:572449
Abstract

We report on a 7-year-aged girl with severe mental and physical retardation, short stature and malformations of the face and limbs. In the karyogramm an interstitial deletion of the long arm of a chromosome Nr. 13 was found. The karyotypes of the parents, the girl's brother and of three of her sisters were normal. In the discussion the symptoms of the few hitherto published cases with interstitial or terminal deletion of the chromosome 13 are compared. Till now, however, it is not possible to attach particular symptoms of 13q- -- syndromes to certain bands of the chromosome Nr. 13.

摘要

我们报告了一名7岁女孩,她有严重的智力和身体发育迟缓、身材矮小以及面部和四肢畸形。在核型分析中发现13号染色体长臂存在中间缺失。其父母、女孩的哥哥以及她的三个姐妹的核型均正常。在讨论中,对迄今为止少数已发表的13号染色体中间或末端缺失病例的症状进行了比较。然而,到目前为止,还无法将13q-综合征的特定症状与13号染色体的某些带区联系起来。

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