Article
An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.
American journal of medical genetics. Part A - 1 Dec 2012
Palumbo Orazio, Palumbo Pietro, Palladino Teresa, Stallone Raffaella, Miroballo Mattia, Piemontese Maria Rosaria, Zelante Leopoldo, Carella Massimo
Abstract excerpt
Interstitial deletions of chromosome 15q25.2 are rare. To date, only nine patients with microdeletions within this chromosomal region have been described. Here, we report on a girl with severe speech and psychomotor delay, behavioral problems and mild dysmorphic features with a 1.6 Mb deletion in 15q25.2 region. In order to study the parental origin of the rearrangement, we analyzed selected SNPs in the deleted...
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