A DENOVO TRANSLOCATION T(3-17)(Q26.3-Q23.1) IN A CHILD WITH CORNELIA-DE-LANGE-SYNDROME

被引：66

作者：

IRELAND, M

ENGLISH, C

CROSS, I

HOULSBY, WT

BURN, J

机构：

[1] UNIV NEWCASTLE UPON TYNE,DEPT HUMAN GENET,19 CLAREMONT PL,NEWCASTLE TYNE NE2 4AA,ENGLAND

[2] N TYNESIDE GEN HOSP,DEPT CHILDRENS,N SHIELDS NE29 8NH,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 09期

关键词：

D O I：

10.1136/jmg.28.9.639

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.

引用

页码：639 / 640

页数：2

共 7 条

[1] CHROMOSOMES IN THE CORNELIA-DE-LANGE SYNDROME [J].

BECK, B ;

MIKKELSEN, M .

HUMAN GENETICS, 1981, 59 (04) :271-276

[2]

BERG JM, 1970, DELANGE SYNDROME

[3] PARTIAL DELETION OF DISTAL 17Q [J].

BRIDGE, J ;

SANGER, W ;

MOSHER, G ;

BUEHLER, B ;

NELSON, R ;

WELSH, M ;

NEWLAND, J ;

KAFKA, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (02) :225-229

[4]

CRAIG AP, 1965, LANCET, V2, P445

[5] INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-3 IN A PATIENT WITH MENTAL-RETARDATION AND CONGENITAL-ANOMALIES [J].

FRANCESCHINI, P ;

SILENGO, MC ;

DAVI, G ;

BIANCO, R ;

BIAGIOLI, M .

HUMAN GENETICS, 1983, 64 (01) :97-97

[6]

FRYNS JP, 1987, CLIN GENET, V31, P413

[7] THE DUP(3Q) SYNDROME - REPORT OF 8 CASES AND REVIEW OF THE LITERATURE [J].

STEINBACH, P ;

ADKINS, WN ;

CASPAR, H ;

DUMARS, KW ;

GEBAUER, J ;

GILBERT, EF ;

GRIMM, T ;

HABEDANK, M ;

HANSMANN, I ;

HERRMANN, J ;

KAVEGGIA, EG ;

LANGENBECK, U ;

MEISNER, LF ;

NAJAFZADEH, TM ;

OPITZ, JM ;

PALMER, CG ;

PETERS, HH ;

SCHOLZ, W ;

TAVARES, AS ;

WIEDEKING, C .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1981, 10 (02) :159-177

← 1 →