title: A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.
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.
authors.affiliation: Division of Clinical Genetics and Metabolics, Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, Canada M5G 1X8. Shailly.jain@sickkids.ca
authors.forename: Shailly
authors.initials: S
authors.lastname: Jain
authors.forename: Ping
authors.initials: P
authors.lastname: Yang
authors.forename: S A
authors.initials: SA
authors.lastname: Farrell
mesh_terms: D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002872:Chromosome Deletion; D002875:Chromosomes / Q000648:ultrastructure; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities*; D017353:Gene Deletion; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics; D008297:Male; D008957:Models, Genetic; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome