SMALL TERMINAL DELETIONS OF THE LONG ARM OF CHROMOSOME-2 - 2 NEW CASES

被引：24

作者：

FISHER, AM

ELLIS, KH

BROWNE, CE

BARBER, JCK

BARKER, M

KENNEDY, CR

FOLEY, H

PATTON, MA

机构：

[1] W DORSET GEN HOSP NHS TRUST,CHILDRENS CTR,DORCHESTER,DORSET,ENGLAND

[2] SOUTHAMPTON GEN HOSP,DEPT CHILD HLTH,SOUTHAMPTON SO9 4XY,HANTS,ENGLAND

[3] ROYAL SURREY CTY HOSP,CHILDRENS UNIT,GUILDFORD,SURREY,ENGLAND

[4] ST GEORGE HOSP,SCH MED,SW THAMES REG GENET SERV,LONDON,ENGLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 53卷 / 04期

关键词：

TERMINAL DELETION 2Q; HYPOTONIA; PSYCHOMOTOR RETARDATION;

D O I：

10.1002/ajmg.1320530412

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases. The phenotype associated with small terminal 2q deletions is variable and clearly not always as mild as indicated in previous reports. The abnormality may also be more common than has been assumed. (C) 1994 Wiley-Liss, Inc.

引用

页码：366 / 369

页数：4

共 12 条

[1] TERMINAL DELETION OF THE LONG ARM OF CHROMOSOME-2 IN A MILDLY DYSMORPHIC HYPOTONIC INFANT WITH KARYOTYPE 46,XY,DEL(2)(Q37) [J].

GORSKI, JL ;

COX, BA ;

KVINE, M ;

UHLMANN, W ;

GLOVER, TW .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (03) :350-352

[2]

HAAG M, 1993, AM J HUM GENET, V53, P1571

[3]

HALL JG, 1990, AM J HUM GENET, V46, P857

[4] SMALLEST TERMINAL DELETION OF THE LONG ARM OF CHROMOSOME-2 IN A MILDLY AFFECTED BOY [J].

LIN, SP ;

PETTY, EM ;

GIBSON, LH ;

INSERRA, J ;

SEASHORE, MR ;

YANGFENG, TL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (04) :500-502

[5]

OLEY CA, 1992, J MED GENET, V30, P338

[6]

PHELAN MC, 1993, AM J HUM GENET, V53, P484

[7] FLUORESCENCE INSITU HYBRIDIZATION WITH HUMAN CHROMOSOME-SPECIFIC LIBRARIES - DETECTION OF TRISOMY-21 AND TRANSLOCATIONS OF CHROMOSOME-4 [J].

PINKEL, D ;

LANDEGENT, J ;

COLLINS, C ;

FUSCOE, J ;

SEGRAVES, R ;

LUCAS, J ;

GRAY, J .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (23) :9138-9142

[8] A CASE OF DELETION 2Q35-]QTER AND A PECULIAR PHENOTYPE [J].

SANCHEZ, JM ;

PANTANO, AM .

JOURNAL OF MEDICAL GENETICS, 1984, 21 (02) :147-149

[9] MOUSE HOMOLOGS OF HUMAN HEREDITARY-DISEASE [J].

SEARLE, AG ;

EDWARDS, JH ;

HALL, JG .

JOURNAL OF MEDICAL GENETICS, 1994, 31 (01) :1-19

[10] DELETION (2)(Q37) [J].

STRATTON, RF ;

TOLWORTHY, JA ;

YOUNG, RS .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (02) :153-155

← 1 2 →