PROTELOMERIC SEQUENCES ARE DELETED IN CASES OF SHORT ARM INVERTED DUPLICATION OF CHROMOSOME-8

被引：22

作者：

BARBER, JCK ^{[1
]}

JAMES, RS ^{[1
]}

PATCH, C ^{[1
]}

TEMPLE, IK ^{[1
]}

机构：

[1] PRINCESS ANNE HOSP,WESSEX CLIN GENET SERV,SOUTHAMPTON,ENGLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 50卷 / 03期

关键词：

CHROMOSOME ABNORMALITY; CHROMOSOME-8; INVERTED DUPLICATION 8P; TERMINAL DELETION 8P;

D O I：

10.1002/ajmg.1320500315

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis confirmed the cytogenetic suspicion of a simultaneous deletion of the tip of the short arm and indicated the maternal origin of the abnormality. This deletion made no detectable contribution to the phenotype of the patient which was comparable to that of previous cases of 8p duplication. Similar investigations of inverted duplications involving other chromosomes may reveal unexpected deletions with significant phenotypic consequences. (C) 1994 Wiley-Liss, Inc.

引用

页码：296 / 299

页数：4

共 22 条

[1] PARTIAL MONOSOMY-8P WITH MINIMAL DYSMORPHIC SIGNS [J].

BLENNOW, E ;

BRONDUMNIELSEN, K .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (05) :327-329

[2]

DILL FJ, 1987, CLIN GENET, V32, P109

[3]

FRYNS JP, 1985, CLIN GENET, V28, P546

[4]

FRYNS JP, 1989, ANN GENET-PARIS, V32, P171

[5]

GORINATI M, 1991, CLIN GENET, V39, P55

[6] CHARACTERIZATION OF AN INVERSION DUPLICATION OF THE SHORT ARM OF CHROMOSOME-8 BY FLUORESCENT INSITU HYBRIDIZATION [J].

HENDERSON, KG ;

DILL, FJ ;

WOOD, S .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (05) :615-618

[7] ISOLATION AND CHROMOSOMAL ASSIGNMENT OF 100 HIGHLY INFORMATIVE HUMAN SIMPLE SEQUENCE REPEAT POLYMORPHISMS [J].

HUDSON, TJ ;

ENGELSTEIN, M ;

LEE, MK ;

HO, EC ;

RUBENFIELD, MJ ;

ADAMS, CP ;

HOUSMAN, DE ;

DRACOPOLI, NC .

GENOMICS, 1992, 13 (03) :622-629

[8] DISTAL 8P DELETION (8P23.1-]8PTER) - A COMMON DELETION [J].

HUTCHINSON, R ;

WILSON, M ;

VOULLAIRE, L .

JOURNAL OF MEDICAL GENETICS, 1992, 29 (06) :407-411

[9]

JENSEN PKA, 1982, ANN GENET-PARIS, V25, P207

[10]

LAMB J, 1993, AM J HUM GENET, V52, P668

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