The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders

被引：14

作者：

Battaglia, A

Bonaglia, MC

机构：

[1] Stella Maris Clin Res Inst Child & Adolescent Neu, Ctr Study Congenital Malformat Syndromes, Clin Neurophysiol Serv, I-56018 Pisa, Italy

[2] Univ Pisa, I-56100 Pisa, Italy

[3] Univ Utah, Hlth Sci Ctr, Div Med Genet, Dept Pediat, Salt Lake City, UT USA

[4] Sci Inst E Medea, Bosisio Parini, Lecco, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2006年 / 142C卷 / 01期

关键词：

autism; autism spectrum disorders; pervasive developmental disorders; telomere; subtelomeric regions; subtelomeric FISH analysis;

D O I：

10.1002/ajmg.c.30077

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

To assess the frequency of cryptic subtelomeric rearrangements in children and adolescents with autism spectrum disorders, blood samples were studied using a complete set of subtelomeric FISH probes in 72 children with autism spectrum disorders. All children had normal high resolution karyotype, DNA fra-X analysis, brain MRI, metabolic work-up, and physical/neirological examination. Subtelomeric analysis did not detect abnormalities in any of the subjects, suggesting the uselessness of such investigations in individuals with primary autism spectrum disorders. (C) 2006 Wiley-Liss, Inc.

引用

页码：8 / 12

页数：5

共 57 条

[1]

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes [J].

Aldred, MA ;

Sanford, ROC ;

Thomas, NS ;

Barrow, MA ;

Wilson, LC ;

Brueton, LA ;

Bonaglia, MC ;

Hennekam, RCM ;

Eng, C ;

Dennis, NR ;

Trembath, RC .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (06) :433-439

[2]

*AM PSYCH ASS, 1995, DIAGN STAT MAN MENT, P67

[3]

Subtelomeric rearrangements detected in patients with idiopathic mental retardation [J].

Anderlid, BM ;

Schoumans, J ;

Annerén, G ;

Sahlén, S ;

Kyllerman, M ;

Vujic, M ;

Hagberg, B ;

Blennow, E ;

Nordenskjöld, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 107 (04) :275-284

[4]

[Anonymous], 1996, Nat Genet, V14, P86

[5]

A genomewide screen for autism-spectrum disorders:: Evidence for a major susceptibility locus on chromosome 3q25-27 [J].

Auranen, M ;

Vanhala, R ;

Varilo, T ;

Ayers, K ;

Kempas, E ;

Ylisaukko-oja, T ;

Sinsheimer, JS ;

Peltonen, L ;

Järvelä, I .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) :777-790

[6]

Bailey A, 1998, HUM MOL GENET, V7, P571

[7]

DUPLICATION OF CHROMOSOME 15Q11-13 IN 2 INDIVIDUALS WITH AUTISTIC DISORDER [J].

BAKER, P ;

PIVEN, J ;

SCHWARTZ, S ;

PATIL, S .

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 1994, 24 (04) :529-535

[8]

Barrett S, 1999, AM J MED GENET, V88, P609

[9]

The inv dup(15) syndrome: A clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy [J].

Battaglia, A ;

Gurrieri, F ;

Bertini, E ;

Bellacosa, A ;

Pomponi, MG ;

ParavatouPetsotas, M ;

Mazza, S ;

Neri, G .

NEUROLOGY, 1997, 48 (04) :1081-1086

[10]

The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder [J].

Battaglia, A .

BRAIN & DEVELOPMENT, 2005, 27 (05) :365-369

← 1 2 3 4 5 6 →