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  • Title: A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.
    Author: Jain S, Yang P, Farrell SA.
    Journal: Eur J Med Genet; 2010; 53(2):108-10. PubMed ID: 20074678.
    Abstract:
    Nablus mask-like facial syndrome (NMLFS) has been reported in six patients with a recognizable facial appearance, along with other clinical features. Microdeletions of 8q21.3-8q22.1 were identified in all six cases, with the deleted region in common being 8q22.1 (2.78 Mb in length). In this report, we describe a child with speech delay and features of an autistic spectrum disorder and with a 1.6 Mb deletion of 8q22.1. The deletion has significant chromosomal overlap with previously reported examples of NMLFS, but our patient lacks the clinical features noted in the published cases.
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