Published in

BioMed Central, Molecular Cytogenetics, 1(8), 2015

DOI: 10.1186/s13039-015-0120-0

Links

Tools

Export citation

Search in Google Scholar

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss

Journal article published in 2015 by Sandra Iossa, Valerio Costa ORCID, Virginia Corvino, Gennaro Auletta, Luigi Barruffo, Stefania Cappellani, Carlo Ceglia, Giovanni Cennamo, Adamo Pio D'Adamo ORCID, Adamo Pio D’Adamo, Alessandra D'Amico, Alessandra D’Amico, Nilde Di Paolo, Raimondo Forte, Paolo Gasparini and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Upload
Green circle
Postprint: archiving allowed
Upload
Green circle
Published version: archiving allowed
Upload
Policy details
Data provided by SHERPA/RoMEO

Abstract

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.