CHARACTERIZATION OF A SMALL SUPERNUMERARY RING X-CHROMOSOME BY FLUORESCENCE IN-SITU HYBRIDIZATION

被引：24

作者：

DUNCAN, AMV

MACDONALD, A

BROWN, CJ

WOLFF, D

WILLARD, HF

SUTTON, B

机构：

[1] CASE WESTERN RESERVE UNIV,SCH MED,CTR HUMAN GENET,CLEVELAND,OH 44106

[2] QUEENS UNIV,DEPT PATHOL,KINGSTON K7L 3N6,ONTARIO,CANADA

[3] QUEENS UNIV,DEPT PAEDIAT,KINGSTON K7L 3N6,ONTARIO,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 08期

关键词：

MARKER CHROMOSOME; RING-X; MOSAICISM; XIST; X-INACTIVATION; DEVELOPMENTAL DELAY;

D O I：

10.1002/ajmg.1320470804

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a male with mild learning disabilities who has a supernumerary marker chromosome. The marker chromosome was defined by fluorescence in situ hybridization as a ring X chromosome with breakpoints in the juxacentromeric region. Replication studies suggest that the ring X is late-replicating. However XIST, a gene in the X inactivation centre interval which is expressed exclusively from the inactive X chromosome, is not present on the marker, nor is it expressed in the patient's cells. These results are discussed with respect to karyotype-phenotype correlations and X inactivation. (C) 1993 Wiley-Liss, Inc.

引用

页码：1153 / 1156

页数：4

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