A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization

被引：7

作者：

Flaherty, L ^{[1
]}

Moloney, J ^{[1
]}

Watson, N ^{[1
]}

Robson, L ^{[1
]}

Bousfield, L ^{[1
]}

Smith, A ^{[1
]}

机构：

[1] New Childrens Hosp, Dept Cytogenet, Westmead, NSW, Australia

来源：

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH | 1998年 / 42卷

关键词：

t(5p; 21q); unbalanced translocation; complete monosomy 21;

D O I：

10.1046/j.1365-2788.1998.00118.x

中图分类号：

G76 [特殊教育];

学科分类号：

040109 ;

摘要：

A case is presented in which monosomy 21 was detected by routine cytogenetics and fluorescence in situ hybridization (FISH) studies demonstrated an unbalanced translocation t(5;21). The patient was partially monosomic for both 5p and 21q. The phenotype of the infant showed some features of the 5p- (cri-du-chat) syndrome, but there were also features present which were uncharacteristic of this syndrome. The present findings, combined with similar cases reported in the literature, provide further support for a proximal monosomy 21q syndrome.

引用

页码：254 / 258

页数：5

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