ECTRODACTYLY AND PROXIMAL INTERMEDIATE INTERSTITIAL DELETION 7Q

被引：26

作者：

MCELVEEN, C

CARVAJAL, MV

MOSCATELLO, D

TOWNER, J

LACASSIE, Y

机构：

[1] LOUISIANA STATE UNIV,MED CTR,DEPT PEDIAT,DIV CLIN GENET,NEW ORLEANS,LA 70112

[2] LOUISIANA STATE UNIV,MED CTR,CTR MOLEC & HUMAN GENET,NEW ORLEANS,LA 70112

[3] CHILDRENS HOSP NEW ORLEANS,CYTOGENET LAB,NEW ORLEANS,LA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 56卷 / 01期

关键词：

ECTRODACTYLY; MENTAL RETARDATION; MICROCEPHALY; SCOLIOSIS; OROMANDIBULAR-LIMB HYPOGENESIS; PROXIMAL INTERMEDIATE INTERSTITIAL DELETION 7Q;

D O I：

10.1002/ajmg.1320560102

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on an individual with severe mental retardation, seizures, microcephaly, unusual face, scoliosis, and cleft feet and cleft right hand, The chromosomal study showed a proximal interstitial deletion 7q (q11.23q22). From our review of the literature, 11 patients have been reported with ectrodactyly (split hand/split foot malformation) and proximal/intermediate interstitial deletions or rearrangements of 7q, The critical segment for ectrodactyly seems to be located between 7q21.2 and 7q22.1. This malformation is present in 41% of the patients whose deletion involves the critical segment. (C) 1995 Wiley-Liss, Inc.

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页码：1 / 5

页数：5

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