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

Research output: Contribution to journalArticle

Abstract

© 2017 Wiley Periodicals, Inc. 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.
Original languageEnglish
Pages (from-to)1970-1974
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number7
DOIs
Publication statusPublished - Jul 1 2017

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Keywords

  • 19q13.32
  • copy number variation
  • developmental delay
  • microdeletion
  • SNPs array

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