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[9号染色体长臂间插缺失]

[Intercalary deletions of 9q].

作者信息

Turleau C, de Grouchy J, Chabrolle J P

出版信息

Ann Genet. 1978 Dec;21(4):234-6.

PMID:314262
Abstract

Two interstitial deletions of different segments of 9q are reported. The first deletion (9/11q22) was seen in an 8-year-old boy with severe psychomotor retardation and descrete facial dysmorphism. The second deletion (9q32q34) was seen in a 5-month-old boy with a very peculiar cranio-facial dysmorphism including brachycephaly, frontal bossing, a deep nasal bridge, a short nose, and absence of triradii b, c and d.

摘要

报告了两例9号染色体长臂不同片段的间质性缺失。第一例缺失(9/11q22)见于一名8岁男孩,伴有严重精神运动发育迟缓及轻微面部畸形。第二例缺失(9q32q34)见于一名5个月大的男孩,具有非常特殊的颅面部畸形,包括短头畸形、额部隆突、鼻梁深陷、鼻子短小以及b、c和d三叉点缺失。

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