TRICHORHINOPHALANGEAL SYNDROME TYPE-II (LANGER-GIEDION) WITH PERSISTENT CLOACA AND PRUNE BELLY SEQUENCE IN A GIRL WITH 8Q INTERSTITIAL DELETION

被引：16

作者：

RAMOS, FJ

MCDONALDMCGINN, DM

EMANUEL, BS

ZACKAI, EH

机构：

[1] CHILDRENS HOSP PHILADELPHIA,DIV CLIN GENET,WOOD BLDG,1ST FLOOR,34TH ST & CIV CTR BLVD,PHILADELPHIA,PA 19104

[2] CHILDRENS HOSP PHILADELPHIA,DIV HUMAN GENET & MOLEC BIOL,GENOME ANAL SECT,PHILADELPHIA,PA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 06期

关键词：

LANGER-GIEDION SYNDROME F8Q DELETION; CONTIGUOUS GENE SYNDROME;

D O I：

10.1002/ajmg.1320440614

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A patient with the diagnosis of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) and interstitial 8q deletion was also noted to have persistent cloaca and prune belly sequence. This is the first report of this association. If it postulated that these latter embryonic defects may be due to the chromosome abnormality, supporting the definition of contiguous gene syndrome.

引用

页码：790 / 794

页数：5

共 22 条

[1]

BOWEN P, 1985, ANN GENET-PARIS, V28, P224

[2]

BRENHOLZ P, 1989, American Journal of Human Genetics, V45, pA41

[3] CHROMOSOME DELETION AND MULTIPLE CARTILAGINOUS EXOSTOSES [J].