12q14 microdeletion syndrome and short stature with or without relative macrocephaly

Toshiki Takenouchi, Keisuke Enomoto, Toshihiko Nishida, Chiharu Torii, Tadaharu Okazaki, Takao Takahashi, Kenjiro Kosaki

研究成果: Article査読

11 被引用数 (Scopus)


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.

ジャーナルAmerican Journal of Medical Genetics, Part A
158 A
出版ステータスPublished - 2012 10月

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)


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