title: Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.
abstract: Deletions of the long arm of chromosome 4 are rare but have been previously reported to be associated with craniofacial anomalies, digital anomalies, developmental delay, growth failure, and cardiovascular anomalies. Strehle et al. previously presented 20 patients with 4q deletions and began to construct a phenotype-genotype map for chromosome 4q. This report follows up on that work by providing clinical and molecular cytogenetic data on a three generation pedigree including seven patients with short stature, dysmorphic features, and developmental delay identified to have a 4q27-q28.1 microdeletion of approximately 5.68 Mb by oligonucleotide chromosomal microarray. This family represents a rare report of an inherited interstitial deletion of the long arm of chromosome 4. To our knowledge, only two cases have been previously reported. The contribution of candidate genes in the region is discussed.
authors.affiliation: Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address: scott.hickey@nationwidechildrens.org.
authors.forename: Scott E
authors.initials: SE
authors.lastname: Hickey
authors.forename: Sawona
authors.initials: S
authors.lastname: Biswas
authors.forename: Devon Lamb
authors.initials: DL
authors.lastname: Thrush
authors.forename: Robert E
authors.initials: RE
authors.lastname: Pyatt
authors.forename: Julie M
authors.initials: JM
authors.lastname: Gastier-Foster
authors.forename: Caroline
authors.initials: C
authors.lastname: Astbury
authors.forename: Joan
authors.initials: J
authors.lastname: Atkin
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome
keywords: 4q Deletion; Developmental delay; Microarray; Short stature syndrome