PARTIAL TRISOMY-3Q CAUSING MILD CORNELIA DE LANGE PHENOTYPE

被引：28

作者：

HOLDER, SE ^{[1
]}

GRIMSLEY, LM ^{[1
]}

PALMER, RW ^{[1
]}

BUTLER, JL ^{[1
]}

BARAITSER, M ^{[1
]}

机构：

[1] QUEEN ELIZABETH HOSP CHILDREN,REG CYTOGENET LAB,LONDON E2 8PS,ENGLAND

来源：

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

关键词：

D O I：

10.1136/jmg.31.2.150

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome. Cytogenetic analysis showed them to be trisomic for the region 3q25.1-26.2 because of the inheritance of an unbalanced interchromosomal insertion from their father, who was a balanced insertion carrier. The clinical phenotype and cytogenetic analysis (including chromosome painting studies) in relation to the possible localisation of the Cornelia de Lange gene are discussed.

引用

页码：150 / 152

页数：3

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