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
收藏
页码：254 / 258
页数：5
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