HYDROCEPHALUS IN AN INFANT WITH TRISOMY-22

被引：11

作者：

FAHMI, F ^{[1
]}

SCHMERLER, S ^{[1
]}

HUTCHEON, RG ^{[1
]}

机构：

[1] ST JOSEPHS HOSP,DEPT OBSTET,PATERSON,NJ

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 02期

关键词：

D O I：

10.1136/jmg.31.2.141

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present an infant with true trisomy 22. Mosaicism is ruled out by the finding of a 47,XX, + 22 karyotype in all cells analysed originating from two embryonic germ layers. The physical findings are consistent with the previously noted features including developmental delay, ear abnormalities, micrognathia, clefting, and congenital heart disease. The patient is the first described with macrocephaly and hydrocephalus and the second with holoprosencephaly.

引用

页码：141 / 144

页数：4

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