title: 12q14 microdeletion syndrome and short stature with or without relative macrocephaly.
abstract: Patients with 12q14 microdeletion can present with short stature with or without relative macrocephaly. When associated with relative macrocephaly, the phenotype resembles Silver-Russell syndrome (SRS). Short stature is attributable to haploinsufficiency of HMGA2, but a patient with a deletion at the HMGA2 locus only did not have macrocephaly. Hence, the presence of a separate locus for a relative macrocephaly phenotype was suggested. Herein, we present a girl with a 12q14 microdeletion involving the HMGA2 locus who had short stature but did not have macrocephaly. Inclusion and exclusion mappings based on a quantitative review of the degree of relative macrocephaly and the extent of the deletions in previously reported patients with a 12q14 microdeletion demonstrated a presumptive interval for relative macrocephaly spanning a few megabases. These results confirm that a deletion spanning both HMGA2 and this presumptive interval locus would cause an SRS-like phenotype.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Toshiki
authors.initials: T
authors.lastname: Takenouchi
authors.forename: Keisuke
authors.initials: K
authors.lastname: Enomoto
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Nishida
authors.forename: Chiharu
authors.initials: C
authors.lastname: Torii
authors.forename: Tadaharu
authors.initials: T
authors.lastname: Okazaki
authors.forename: Takao
authors.initials: T
authors.lastname: Takahashi
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D025743:HMGA2 Protein / Q000235:genetics*; D006801:Humans; D058627:Megalencephaly / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D056730:Silver-Russell Syndrome / Q000235:genetics / Q000473:pathology
chemical_list: D025743:HMGA2 Protein