Literature DB >> 16419095

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

Agatino Battaglia1, Maria C Bonaglia.   

Abstract

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/neurological 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.

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Year:  2006        PMID： 16419095     DOI： 10.1002/ajmg.c.30077

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN： 1552-4868            Impact factor:   3.908


  6 in total

1.  Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

Authors:  Françoise Devillard; Vincent Guinchat; Daniel Moreno-De-Luca; Anne-Claude Tabet; Nicolas Gruchy; Pascale Guillem; Marie-Ange Nguyen Morel; Nathalie Leporrier; Marion Leboyer; Pierre-Simon Jouk; James Lespinasse; Catalina Betancur
Journal:  Am J Med Genet A       Date:  2010-09       Impact factor: 2.802

2.  Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.

Authors:  Watfa Al-Mamari; Abeer Al-Saegh; Adila Al-Kindy; Zandre Bruwer; Fathiya Al-Murshedi; Khalid Al-Thihli
Journal:  J Autism Dev Disord       Date:  2015-08

Review 3.  Syndromic autism: causes and pathogenetic pathways.

Authors:  Arianna Benvenuto; Romina Moavero; Riccardo Alessandrelli; Barbara Manzi; Paolo Curatolo
Journal:  World J Pediatr       Date:  2009-08-20       Impact factor: 2.764

4.  Unexplained autism is frequently associated with low-level mosaic aneuploidy.

Authors:  Y B Yurov; S G Vorsanova; I Y Iourov; I A Demidova; A K Beresheva; V S Kravetz; V V Monakhov; A D Kolotii; V Y Voinova-Ulas; N L Gorbachevskaya
Journal:  J Med Genet       Date:  2007-05-04       Impact factor: 6.318

5.  Recent advances in the pathogenesis of syndromic autisms.

Authors:  A Benvenuto; B Manzi; R Alessandrelli; C Galasso; P Curatolo
Journal:  Int J Pediatr       Date:  2009-06-21

6.  Clinical genetic testing for patients with autism spectrum disorders.

Authors:  Yiping Shen; Kira A Dies; Ingrid A Holm; Carolyn Bridgemohan; Magdi M Sobeih; Elizabeth B Caronna; Karen J Miller; Jean A Frazier; Iris Silverstein; Jonathan Picker; Laura Weissman; Peter Raffalli; Shafali Jeste; Laurie A Demmer; Heather K Peters; Stephanie J Brewster; Sara J Kowalczyk; Beth Rosen-Sheidley; Caroline McGowan; Andrew W Duda; Sharyn A Lincoln; Kathryn R Lowe; Alison Schonwald; Michael Robbins; Fuki Hisama; Robert Wolff; Ronald Becker; Ramzi Nasir; David K Urion; Jeff M Milunsky; Leonard Rappaport; James F Gusella; Christopher A Walsh; Bai-Lin Wu; David T Miller
Journal:  Pediatrics       Date:  2010-03-15       Impact factor: 7.124
  6 in total

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