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

共 50 条

[1] PRENATAL CHARACTERIZATION OF SUPERNUMERARY MARKER RING CHROMOSOME BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)
EBRAHIM, SAD
MOHAMED, AN
KRIVCHENIA, EL
TREADWELL, MC
JOHNSON, MP
EVANS, MI
AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 627 - 627
[2] CHARACTERIZATION OF SUPERNUMERARY RING MARKER CHROMOSOMES BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)
BLENNOW, E
ANNEREN, G
BUI, TH
BERGGREN, E
ASADI, E
NORDENSKJOLD, M
AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (02) : 433 - 442
[3] A SMALL SUPERNUMERARY MARKER CHROMOSOME-X IDENTIFIED BY IN-SITU HYBRIDIZATION
SILAHTAROGLU, AN
HACIHANEFIOGLU, S
YILMAZ, S
TARKAN, Y
CENANI, A
TUMER, Z
CLINICAL GENETICS, 1995, 47 (05) : 270 - 273
[4] IDENTIFICATION OF SUPERNUMERARY RING CHROMOSOME-1 MOSAICISM USING FLUORESCENCE IN-SITU HYBRIDIZATION
CHEN, H
TUCKMULLER, CM
BATISTA, DAS
WERTELECKI, W
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 56 (02): : 219 - 223
[5] Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization
vanLangen, IM
Otter, MA
Aronson, DC
OverwegPlandsoen, WCG
Hennekam, RCM
Leschot, NJ
Hoovers, JMN
CLINICAL GENETICS, 1996, 49 (01) : 49 - 53
[6] ELUCIDATION OF STRUCTURAL ABNORMALITIES OF THE X-CHROMOSOME USING FLUORESCENCE IN-SITU HYBRIDIZATION WITH A Y-CHROMOSOME PAINTING PROBE
HOWELL, RT
MILLENER, R
THORNE, S
OLOUGHLIN, J
BRASSEY, J
MCDERMOTT, A
JOURNAL OF MEDICAL GENETICS, 1994, 31 (03) : 206 - 208
[7] Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus
Le Caignec, C
Boceno, M
Joubert, M
Winer, N
Aubron, F
Fallet-Bianco, C
Rival, JM
PRENATAL DIAGNOSIS, 2003, 23 (02) : 143 - 145
[8] Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization
Mingran Sun
Han Zhang
Guiying Li
Carrie J. Guy
Xianfu Wang
Xianglan Lu
Fangchao Gong
Jiyun Lee
Susan Hassed
Shibo Li
Scientific Reports, 7
[9] Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization
Sun, Mingran
Zhang, Han
Li, Guiying
Guy, Carrie J.
Wang, Xianfu
Lu, Xianglan
Gong, Fangchao
Lee, Jiyun
Hassed, Susan
Li, Shibo
SCIENTIFIC REPORTS, 2017, 7
[10] CYTOGENETIC AND FLUORESCENCE IN-SITU HYBRIDIZATION STUDIES IN THE CHARACTERIZATION OF A MARKER CHROMOSOME
KENT, C
JOHNSON, E
TEMPLE, JP
SEKHON, GS
AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1797 - 1797

← 1 2 3 4 5 →