Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Jul;173(7):1970-1974.
doi: 10.1002/ajmg.a.38256. Epub 2017 Apr 14.

Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature

Laura Travan  1 , Samuele Naviglio  2 , Angela De Cunto  1 , Andrea Pellegrin  3 , Vanna Pecile  4 , Alessandro Mauro Spinelli  5 , Stefania Cappellani  4 , Flavio Faletra  4
Affiliations

Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature

Laura Travan et al. Am J Med Genet A. 2017 Jul.

Abstract

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.

Keywords: 19q13.32; SNPs array; copy number variation; developmental delay; microdeletion.

PubMed Disclaimer

LinkOut - more resources