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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