TY - JOUR T1 - Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature. JF - Am J Med Genet A Y1 - 2017 A1 - Travan, Laura A1 - Naviglio, Samuele A1 - De Cunto, Angela A1 - Pellegrin, Andrea A1 - Pecile, Vanna A1 - Spinelli, Alessandro Mauro A1 - Cappellani, Stefania A1 - Faletra, Flavio AB -

The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia, developmental delay, facial dysmorphism, micrognathia, kyphoscoliosis, and buried penis. Chromosomal microarray revealed an interstitial 327 kb de novo microdeletion in the 19q13.32 region comprising eight genes (ARGHAP35, NPAS1, TMEM160, ZC3H4, SAE1, BBC3, MIR3190, and MIR3191). Previously reported cases of microdeletions in the 19q13.32 region were reviewed and compared to our patient, highlighting the common features of a possible 19q13.32 microdeletion syndrome.

U1 - http://www.ncbi.nlm.nih.gov/pubmed/28411391?dopt=Abstract ER -