Article
Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Oct 2012
Christofolini Denise Maria, Meloni Vera Ayres, Ramos Marco Antonio de Paula, Oliveira Mariana Moysés, de Mello Claudia Berlim, Pellegrino Renata, Takeno Sylvia Satomi, Melaragno Maria Isabel
Abstract excerpt
The proximal regions of acrocentric chromosomes, particularly 15q11.2, are frequently involved in structural rearrangement. However, interstitial duplications involving one of the chromosome 15 homologues are less frequent, with few patients described with molecular techniques. These patients present distinctive clinical findings including developmental delay and intellectual disability, minor dysmorphic facial...
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