DETERMINING THE ORIGINS AND THE STRUCTURAL-ABERRATIONS OF SMALL MARKER CHROMOSOMES IN 2 CASES OF 45,X/46,X,+MAR BY USE OF CHROMOSOME-SPECIFIC DNA PROBES

被引:43
作者
LIN, CC
MEYNE, J
SASI, R
BOWEN, P
UNGER, T
TAINAKA, T
HADRO, TA
HOO, JJ
机构
[1] UNIV CALIF LOS ALAMOS SCI LAB,LOS ALAMOS,NM 87544
[2] UNIV ILLINOIS,DEPT PEDIAT,CHICAGO,IL 60680
[3] UNIV ALBERTA,DEPT PATHOL,EDMONTON T6G 2E1,ALBERTA,CANADA
[4] UNIV ALBERTA,DEPT PAEDIAT,EDMONTON T6G 2E1,ALBERTA,CANADA
[5] UNIV ALBERTA,DEPT LAB MED,EDMONTON T6G 2E1,ALBERTA,CANADA
[6] SO ILLINOIS UNIV,DEPT PEDIAT,SPRINGFIELD,IL 62708
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 01期
关键词
interstitial deletion of Y chromosome; mosaic Ullrich-Turner syndrome; ring X chromosome;
D O I
10.1002/ajmg.1320370117
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A 17-year-old girl (S.M.) and a 13-year-old girl (C.L.) both with Ullrich-Turner syndrome (UTS) were found to have 45,X/46,X, + mar mosaicism. The marker chromosomes in both patients were very small in size. In S.M. the marker chromosome was present in 80% of phytohemaglutinin-stimulated lymphocytes, 28% of skin fibroblasts, and 11-20% of gonadal fibroblasts. In C.L., the small marker chromosome was found in 50% of stimulated lymphocytes. S.M. is of normal height, but C.L. is short. Molecular hybridization with a number of Y-specific DNA probes demonstrated their presence in S.M. but abscence in C.L. In situ hybridization with Y-specific and X-centromere-specific DNA probes confirmed the Y origin of the marker chromosome in S.M. and the X origin of the minute chromosome in C.L. Biotinylated centromere and telomere probes were also used for in situ hybridization to show the presence of centromeric and telomeric sequences in the Y-marker chromosome, suggesting that the deletion of this marker chromosome is interstitial.
引用
收藏
页码:71 / 78
页数:8
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