Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome.

Conclusions and Significance: Our study warns that auditory assessment should be evaluated even if the patient with 2q36 deletion syndrome is not obviously presenting hearing loss. In addition, a comprehensive molecular genetics diagnosis involving multiple methods is important to support accurate genetic characterization of this syndrome. PMID: 31403828 [PubMed - as supplied by publisher]
Source: Acta Oto-Laryngologica - Category: ENT & OMF Authors: Tags: Acta Otolaryngol Source Type: research