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

Laura Travan; Samuele Naviglio; Angela De Cunto; Andrea Pellegrin; Vanna Pecile; Alessandro Mauro Spinelli; Stefania Cappellani; Flavio Faletra

doi:10.1002/ajmg.a.38256

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

Am J Med Genet A. 2017 Jul;173(7):1970-1974. doi: 10.1002/ajmg.a.38256. Epub 2017 Apr 14.

Authors

Laura Travan¹, Samuele Naviglio², Angela De Cunto¹, Andrea Pellegrin³, Vanna Pecile⁴, Alessandro Mauro Spinelli⁵, Stefania Cappellani⁴, Flavio Faletra⁴

Affiliations

¹ Department of Perinatal Medicine, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
² Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.
³ Department of Pediatric Radiology, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
⁴ Department of Genetics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
⁵ University of Padua, Padua, Italy.

PMID: 28411391
DOI: 10.1002/ajmg.a.38256

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.