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Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome?

✍ Scribed by Fabio Rueda Faucz; Josiane Souza; Aguinaldo Bonalumi Filho; Vanessa Santos Sotomaior; Egon Frantz; Sergio Antoniuk; Jill A. Rosenfeld; Salmo Raskin

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 162 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34196

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✦ Synopsis

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. © 2011 Wiley‐Liss, Inc.

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## Abstract Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13‐year‐old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumerary marker chromosome (SMC). Using fluorescence in situ hybridizat