Free Abstract:Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion
Abstract The pontocerebellar hypoplasias (PCHs) are a group of clinically variable ailments characterized by abnormally tiny cerebellum and brainstem, normally inherited in an autosomal recessive pattern. Although PCHs have been grouped into 6 subtypes, medical analysis is equivocal until finally a genetic prognosis is set up. We report a affected person with PCH, intrauterine growth [...]
A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis
Abstract Autism is a neuro-developmental condition characterized by deficits in social interaction and communication as nicely as restricted interests or repetitive behaviors. Cytogenetic research have implicated large chromosomal aberrations in the etiology of about 5–7% of autism individuals, and the modern advent of array-primarily based tactics enables the exploration of submicroscopic duplicate number variations (CNVs). [...]