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.
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页码：1153 / 1156
页数：4
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