Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders

被引：16

作者：

Keller, K

Williams, C

Wharton, P

Paulk, M

Bent-Williams, A

Gray, B

Ward, A

Stalker, H

Wallace, M

Carter, R

Zori, R

机构：

[1] Univ Florida, Dept Pediat, Div Genet, Raymond C Philips Unit, Gainesville, FL 32610 USA

[2] Univ Florida, Dept Mol Genet & Microbiol, Gainesville, FL USA

[3] Univ Florida, Coll Med, Dept Stat, Gainesville, FL USA

[4] Univ Florida, Jacksonville Ctr Autism & Related Disabil, Jacksonville, FL USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 117A卷 / 02期

关键词：

autism; autism spectrum disorder; telomere; cytogenetic analysis; dup (5)p; dup (15)(q11-13); dup (17)(p11.2);

D O I：

10.1002/ajmg.a.10042

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

To assess the frequency of cytogenetic abnormalities in children with autism spectrum disorders (ASDs), routine G-banded cytogenetic analyses and FISH studies to rule out 15q11.2 and 17p11.2 duplications were performed on 49 children with ASDs. Blood samples were further studied using a complete set of subtelomeric FISH probes. Routine chromosome study showed that one child had a small duplication of chromosome 5: 46,XY,dup(5)(p?14.2p?15.1). Another child had an interstitial duplication of the Prader-Willi and Angelman syndrome critical region of chromosome 15, detected by FISH analysis. The detection of these two cases underscores the importance of obtaining routine chromosome and 15q11-q13 FISH analyses in children with ASDs. No instance of 17p11.2 duplication was observed. Subtelomeric analysis did not reveal abnormalities in any of the subjects. (C) 2003 Wiley-Liss, Inc.

引用

页码：105 / 111

页数：7

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