title: Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.
abstract: The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and often present with a variable range of clinical anomalies. In this study we report three patients with a de novo overlapping microdeletion of chromosome bands 12q15q21.1. The deletions are ∼2.5 Mb in size, with a 1.34-Mb common deleted region containing six RefSeq genes. All three patients present with learning disability or developmental delay, nasal speech and hypothyroidism. In this paper we will further elaborate on the genotype-phenotype correlation associated with this deletion and compare our patients with previously reported cases.
authors.affiliation: Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
authors.forename: Sarah
authors.initials: S
authors.lastname: Vergult
authors.forename: Danijela
authors.initials: D
authors.lastname: Krgovic
authors.forename: Bart
authors.initials: B
authors.lastname: Loeys
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.forename: Agne
authors.initials: A
authors.lastname: Liedén
authors.forename: Britt-Marie
authors.initials: BM
authors.lastname: Anderlid
authors.forename: Freddie
authors.initials: F
authors.lastname: Sharkey
authors.forename: Shelagh
authors.initials: S
authors.lastname: Joss
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
authors.forename: Björn
authors.initials: B
authors.lastname: Menten
mesh_terms: D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics / Q000473:pathology*; D008297:Male; D013060:Speech / Q000502:physiology*; D055815:Young Adult