Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome.

ABSTRACT: The 15q13.3 microdeletion is a recurrent CNV, presumably mediated by NAHR between segmental duplications in chromosome 15. The 15q13.3 deletion and duplication are associated with a wide range of clinical manifestations, such as intellectual deficits, seizures, autism, language and developmental delay, neuropsychiatric impairments, and behavioral problems illustrating incomplete penetrance and expressivity. This study comprises an evaluation of 106 symptomatic patients carrying the heterozygous deletion, as well as of 21 patients carrying the duplication, who have been described in previous studies. The analysis shows considerable heterogeneity for the manifestation of different key symptoms and familiar occurrence. Furthermore, 8 new patients are introduced. Convoluted familiar connection

SUBMITTER: Hassfurther A 

PROVIDER: S-EPMC4772713 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature