A novel mosaic 22q11.2 micro-duplication syndrome: clinical report and literature review. Cerebro-oculo-facio-urethrogenito-skeletal syndrome: de novo condition

Khosroshahi H. E., ÖZDAMAR M. Y., TÜKÜN F. A., Ozkan E. A., Yararbas K., Adam M.

INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, vol.9, no.6, pp.9734-9743, 2016 (SCI-Expanded, Scopus)

Abstract

22q11.2 duplication syndrome (OMIM # 608363) was first described by Edelmann in 1999 and later by other groups. The syndrome presented with clinically normal to varied spectrum of multisystem involvement. The 22q11.2 duplication syndrome in comparison to the 22q11.2 micro-deletion is a relatively rare condition which inherited autosomal dominantly or may occur as de novo condition. This article intends to present a mosaic 22q11.2 microduplication syndrome with novel cerebro-oculo-facio-urethrogenito-skeletal presentation and reviews the literature.