MILD PHENOTYPIC MANIFESTATION OF A 7P15.3P21.2 DELETION

被引：3

作者：

WANG, C

MAYNARD, S

GLOVER, TW

BIESECKER, LG

机构：

[1] UNIV MICHIGAN HOSP,DEPT PEDIAT & COMMUNICABLE DIS,D1109 MPB BOX 0718,ANN ARBOR,MI 48109

[2] UNIV MICHIGAN,DEPT PATHOL,ANN ARBOR,MI 48109

[3] UNIV MICHIGAN,DEPT HUMAN GENET,ANN ARBOR,MI 48109

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 07期

关键词：

D O I：

10.1136/jmg.30.7.610

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 28 month old girl with dysmorphic features was found to have an interstitial deletion of the short arm of chromosome 7p15.3-7p21.2. The patient had ptosis, dacryostenosis, pectus excavatum, short hands, and her development was normal or mildly delayed. Craniosynostosis and growth retardation, which were present in two other patients with similar deletions, were not present. Because of the mild manifestations, this case expands the clinical spectrum of the 7p15-7p21 deletion phenotype.

引用

页码：610 / 612

页数：3

共 14 条

[1] CHROMOSOME-7P - SYNDROME - CRANIOSYNOSTOSIS WITH PRESERVATION OF REGION-7P2 [J].