Jornal de doenças genéticas e relatórios genéticos

A New Case of Microdeletion 5q11.2 with Segmental 5q Isodisomy and Review of the Literature

Pecile V, Devescovi R, Cappellani S, Faletra F and Lenzini E

Deletions of the proximal regions of long arm of chromosome 5 are rare, till date only 10 case reports describing patients with del 5q11.2 are available. Segmental UPD are estimated about 0.6% in the random/general population. Recently Snjiders Blok et al. [1] describe a new microdeletion 5q11.2 syndrome. We report a new case of microdeletion 5q11.1-q11.2 with associated segmental isodisomy 5q11.2-qter, patient presents psychomotor retardation, autism spectrum disorder, patent foramen ovale and speech delay and this case is compared with others reported cases from the literature to contribute for the better understanding of 5q11.2 microdeletion syndrome.