| Literature DB >> 21815264 |
Fabio Rueda Faucz1, Josiane Souza, Aguinaldo Bonalumi Filho, Vanessa Santos Sotomaior, Egon Frantz, Sergio Antoniuk, Jill A Rosenfeld, Salmo Raskin.
Abstract
In the neurodevelopmentally impaired population the frequency of small supernumerary marker chromosomes (sSMC) is about 0.3%. To find the origin of a sSMC in a 4-year-old boy with Asperger syndrome (AS) a microarray-based comparative genomic hybridization (aCGH), using a 135K-feature whole-genome microarray, and Metaphase FISH analysis, was performed. The sSMC was characterized as being composed of 18.4 Mb from 19p12q13.11. Based on the size and genic content, it is expected that the partial trisomy detected is responsible for the characteristics observed in the patient. In that case it could be an indication of a novel locus associated with AS.Entities:
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Year: 2011 PMID： 21815264 DOI： 10.1002/ajmg.a.34196
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802