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7号染色体长臂的新发间质性缺失:46,XY,del(7)(q23;q32)

De novo interstitial deletion of the long arm of chromosome 7:46,XY,del(7)(q23;q32).

作者信息

Martin-Pont B, Pilczer C, Dandine M, Tamboise A

出版信息

Ann Genet. 1985;28(4):251-3.

PMID:3879441
Abstract

A de novo interstitial deletion of the long arm of chromosome 7 is reported in a newborn boy. Our observation is compared with seven others deletions of the same bands. Clinical features showed the following: hypotonia, microcephalia, difficulty in swallowing, low-set dysplastic ears, an abnormal cry, upslanting and small palpebral fissures, and abnormalities of the hands and feet. Delayed mental and physical development is the general rule, and visceral malformations are uncommon. Our patient had genital abnormalities and a cardiac malformation.

摘要

一名男婴被报道存在7号染色体长臂的新发间质性缺失。我们的观察结果与其他7例相同条带缺失的病例进行了比较。临床特征如下:肌张力减退、小头畸形、吞咽困难、低位发育不良耳、哭声异常、睑裂上斜且小、手足异常。智力和身体发育迟缓是普遍规律,内脏畸形并不常见。我们的患者有生殖器异常和心脏畸形。

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