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

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

来源：American Journal of Medical Genetics, Part A, 2017, 173(7): 1970-1974.

DOI：10.1002/ajmg.a.38256

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

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.

• 出版日期2017-7