@article {10500, title = {Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature.}, journal = {Am J Med Genet A}, year = {2017}, month = {2017 Apr 14}, 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.

}, issn = {1552-4833}, doi = {10.1002/ajmg.a.38256}, author = {Travan, Laura and Naviglio, Samuele and De Cunto, Angela and Pellegrin, Andrea and Pecile, Vanna and Spinelli, Alessandro Mauro and Cappellani, Stefania and Faletra, Flavio} } @article {7769, title = {Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.}, journal = {Mol Cytogenet}, volume = {8}, year = {2015}, month = {2015}, pages = {18}, abstract = {

BACKGROUND: Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial deletions at Xq21 with several different phenotypic characteristics have been described, but to date, a complete molecular characterization of the deletions harboring disease-causing genes is still missing. Thus, the aim of this study is to realize a detailed clinical and molecular analysis of a family affected by syndromic X-linked hearing loss with intellectual disability.

RESULTS: Clinical analyses revealed a very complex phenotype that included inner ear malformations, vestibular problems, choroideremia and hypotonia with a peculiar pattern of phenotypic variability. Genomic analysis revealed, for the first time, the presence of two close interstitial deletions in the Xq21.1-21.3, harboring 11 protein coding, 9 non-coding genes and 19 pseudogenes. Among these, 3 protein coding genes have already been associated with X-linked hearing loss, intellectual disability and choroideremia.

CONCLUSIONS: In this study we highlighted the presence of peculiar genotypic and phenotypic details in a family affected by syndromic X-linked hearing loss with intellectual disability. We identified two, previously unreported, Xq21.1-21.3 interstitial deletions. The two rearrangements, containing several genes, segregate with the clinical features, suggesting their role in the pathogenicity. However, not all the observed phenotypic features can be clearly associated with the known genes thus, further study is necessary to determine regions involved.

}, issn = {1755-8166}, doi = {10.1186/s13039-015-0120-0}, author = {Iossa, Sandra and Costa, Valerio and Corvino, Virginia and Auletta, Gennaro and Barruffo, Luigi and Cappellani, Stefania and Ceglia, Carlo and Cennamo, Giovanni and d{\textquoteright}Adamo, Adamo Pio and D{\textquoteright}Amico, Alessandra and Di Paolo, Nilde and Forte, Raimondo and Gasparini, Paolo and Laria, Carla and Lombardo, Barbara and Malesci, Rita and Vitale, Andrea and Marciano, Elio and Franz{\`e}, Annamaria} }