Duplication 8 [inv dup(8)(p12p23)] with macrocephaly

被引：4

作者：

Tonk, VS

Wilson, GN

Velagaleti, GVN

机构：

[1] Univ Texas, Med Branch, Dept Pediat & Pathol, Childrens Hosp, Galveston, TX 77555 USA

[2] Texas Tech Univ, Hlth Sci Ctr, Dept Pediat, Lubbock, TX USA

[3] Texas Tech Univ, Hlth Sci Ctr, Dept Pathol, Lubbock, TX 79430 USA

[4] SW Texas State Univ, Sch Med, Div Pediat Genet & Metab, Dallas, TX USA

来源：

ANNALES DE GENETIQUE | 2001年 / 44卷 / 04期

关键词：

chromosome aberrations; Dup(8p) syndrome; macrocephaly;

D O I：

10.1016/S0003-3995(01)01089-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 10-month old female is described with inv dup(8)(p12p23) who had macrocephaly with subtle changes in facial appearance and no structural birth defects, Her findings, together with those of 37 reported cases with inv dup (8), define a syndrome that emphasizes the importance of genes on the 8p region for brain development. (C) 2001 Editions scientifiques et medicales Elsevier SAS.

引用

页码：195 / 199

页数：5

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