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核型47,XXY,18p缺失——见于一名患有前脑无裂畸形的新生儿。

Karyotype 47,XXY,18p--in a newborn child with holoprosencephaly.

作者信息

Schnabel R, Hansen S

出版信息

Clin Genet. 1983 Mar;23(3):186-90. doi: 10.1111/j.1399-0004.1983.tb01870.x.

Abstract

This may be the first reported case of a 47,XXY,18p--("Klinefelter-de Grouchy I syndrome"), in a post-term male neonate. The child had a dysmorphic facies, a small nose with a single orifice, cranial malformations and an alobar holoprosencephaly. These symptoms corresponded with the known phenotypic variants of the simple 18p--anomaly. The karyotypes of both parents were normal.

摘要

这可能是首例关于一名过期产男性新生儿的47,XXY,18p--(“克兰费尔特-德格鲁希I综合征”)的报道病例。该患儿面部畸形,鼻子小且有单一开口,存在颅骨畸形及无叶全前脑畸形。这些症状与单纯18p--异常的已知表型变异相符。双亲的核型均正常。

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