UPPER-LIMB MALFORMATIONS IN DIGEORGE-SYNDROME

被引：29

作者：

CORMIERDAIRE, V

ISERIN, L

THEOPHILE, D

SIDI, D

VERVEL, C

PADOVANI, JP

VEKEMANS, M

MUNNICH, A

LYONNET, S

机构：

[1] HOP NECKER ENFANTS MALAD,DEPT PEDIAT,F-75743 PARIS 15,FRANCE

[2] HOP NECKER ENFANTS MALAD,INSERM,U393,UNITE RECH HANDICAPS GENET ENFANT,F-75743 PARIS 15,FRANCE

[3] HOP NECKER ENFANTS MALAD,CYTOGENET LAB,F-75743 PARIS 15,FRANCE

[4] HOP NECKER ENFANTS MALAD,SERV ORTHOPED,F-75743 PARIS 15,FRANCE

[5] HOP GEN,SERV PEDIAT,COMPIEGNE,FRANCE

来源：

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

关键词：

DIGEORGE SYNDROME; UPPER LIMB ANOMALIES; 22Q11; DELETION;

D O I：

10.1002/ajmg.1320560111

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on upper limb anomalies in two children with a complete DiGeorge sequence: conotruncal defects, hypocalcemia, thymic aplasia, and facial anomalies. One child had preaxial polydactyly, and the other had club hands with hypoplastic first metacarpal. In both patients, molecular analysis documented a 22q11 deletion. To our knowledge, limb anomalies have rarely been reported in DiGeorge syndrome, and they illustrate the variable clinical expression of chromosome 22q11 deletions. (C) 1995 Wiley-Liss, Inc.

引用

页码：39 / 41

页数：3

共 13 条

[1]

CLEVELAND WW, 1968, LANCET, V2, P1211

[2]

CONLEY ME, 1979, J PEDIATR, V94, P833

[3]

DESMAZE C, 1993, AM J HUM GENET, V53, P1239

[4] PREVALENCE OF 22Q11 MICRODELETIONS IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES - IMPLICATIONS FOR GENETIC-COUNSELING AND PRENATAL-DIAGNOSIS [J].

DRISCOLL, DA ;

SALVIN, J ;

SELLINGER, B ;

BUDARF, ML ;

MCDONALDMCGINN, DM ;

ZACKAI, EH ;

EMANUEL, BS .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (10) :813-817

[5] DIGEORGE-SYNDROME - AN HISTORICAL REVIEW OF CLINICAL AND CYTOGENETIC FEATURES [J].

GREENBERG, F .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (10) :803-806

[6]

HALFORD S, 1993, HUM MOL GENET, V12, P2099

[7]

HUFF DS, 1973, AM J PATHOL, V71, P6

[8]

LAMMER EJ, 1986, AM J MED GENET S, V2, P113

[9]

Le Douarin N, 1980, Curr Top Dev Biol, V16, P31

[10] PARTIAL DIGEORGE SYNDROME WITH SUBSTANTIAL CELL-MEDIATED-IMMUNITY [J].

PABST, HF ;

WRIGHT, WC ;

LERICHE, J ;

STIEHM, ER .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1976, 130 (03) :316-319

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