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Updated: Jun 17, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype
Shailly Jain1, Ping Yang, S A Farrell
1Division of Clinical Genetics and Metabolics, Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, Canada M5G 1X8. Shailly.jain@sickkids.ca
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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