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 ...

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Veröffentlicht in:	American journal of medical genetics. Part A 2017-07, Vol.173 (7), p.1970-1974
Hauptverfasser:	Travan, Laura, Naviglio, Samuele, De Cunto, Angela, Pellegrin, Andrea, Pecile, Vanna, Spinelli, Alessandro Mauro, Cappellani, Stefania, Faletra, Flavio
Format:	Artikel
Sprache:	eng
Schlagworte:	19q13.32 copy number variation developmental delay Kyphosis Literature reviews microdeletion Penis Scoliosis SNPs array
Online-Zugang:	Volltext
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