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

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.



Titolo: Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature
Autori: 
TRAVAN, LAURA
NAVIGLIO, SAMUELE
DE CUNTO, ANGELA
PECILE, VANNA
CAPPELLANI, STEFANIA
FALETRA, FLAVIO
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Data di pubblicazione: 2017
Stato di pubblicazione: Pubblicato
Rivista: 
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A  
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.
Handle: http://hdl.handle.net/11368/2909893
Digital Object Identifier (DOI): http://dx.doi.org/10.1002/ajmg.a.38256
URL: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38256/abstract;jsessionid=CD09E14D4E8B69D702CEF8EB7D4912E2.f04t04
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