title: A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.
abstract: Interstitial deletions of the long arm of chromosome 20 are rarely reported in the literature. We report a 2-year-old child with a 2.6 Mb deletion of 20q13.32-q13.33, detected by microarray-based comparative genomic hybridization, who presented with poor growth, feeding difficulties, abnormal subcutaneous fat distribution with the lack of adipose tissue on clinical examination, facial dysmorphism and low bone mass. This report adds to rare publications describing constitutional aberrations of chromosome 20q, and adds further evidence to the fact that deletion of the GNAS complex may not always be associated with an Albright's hereditary osteodystrophy phenotype as described previously.
authors.affiliation: Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
authors.forename: Meena
authors.initials: M
authors.lastname: Balasubramanian
authors.affiliation: Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
authors.forename: Edward
authors.initials: E
authors.lastname: Atack
authors.affiliation: Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
authors.forename: Kath
authors.initials: K
authors.lastname: Smith
authors.affiliation: Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
authors.forename: Michael James
authors.initials: MJ
authors.lastname: Parker
mesh_terms: D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019959:Feeding and Eating Disorders of Childhood / Q000175:diagnosis* / Q000235:genetics; D056726:Genetic Association Studies; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male