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12q14 microdeletion syndrome and short stature with or without relative macrocephaly
Author(s) -
Takenouchi Toshiki,
Enomoto Keisuke,
Nishida Toshihiko,
Torii Chiharu,
Okazaki Tadaharu,
Takahashi Takao,
Kosaki Kenjiro
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35527
Subject(s) - macrocephaly , locus (genetics) , haploinsufficiency , short stature , microdeletion syndrome , biology , genetics , phenotype , endocrinology , gene
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. © 2012 Wiley Periodicals, Inc.