2 CASES OF INTERSTITIAL DELETION-1P

被引：15

作者：

LAI, MMR ^{[1
]}

ROBARDS, MF ^{[1
]}

BERRY, AC ^{[1
]}

FEAR, CN ^{[1
]}

HART, C ^{[1
]}

机构：

[1] PEMBURY HOSP,TUNBRIDGE WELLS TN2 4QJ,KENT,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 02期

关键词：

D O I：

10.1136/jmg.28.2.128

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(1) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(1) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case 1 and a phenotype that was strikingly similar.

引用

页码：128 / 130

页数：3

共 6 条

[1] DENOVO INTERSTITIAL DELETION DEL(1)(P21P32) [J].

BENE, M ;

DUCAMARINESCU, D ;

IOAN, D ;

MAXIMILIAN, C .

JOURNAL OF MEDICAL GENETICS, 1979, 16 (04) :323-327

[2] REPORT OF THE COMMITTEE ON THE GENETIC CONSTITUTION OF CHROMOSOME-1 [J].

COOK, PJL ;

HAMERTON, JL .

CYTOGENETICS AND CELL GENETICS, 1982, 32 (1-4) :111-120

[3]

HERTZ JM, 1985, ANN GENET-PARIS, V28, P228

[4]

HOWARD PJ, 1990, CLIN GENET, V37, P127

[5]

IKEUCHI T, 1982, CYTOGENET CELL GENET, V32, P287

[6] INTERSTITIAL DELETION 1P IN A 30 YEAR OLD WOMAN [J].

PETERSEN, MB ;

WARBURG, M .

JOURNAL OF MEDICAL GENETICS, 1987, 24 (04) :229-231

← 1 →