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

Research output: Contribution to journalArticlepeer-review

11 Citations (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.

Original languageEnglish
Pages (from-to)2542-2544
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number10
Publication statusPublished - 2012 Oct


  • Microdeletion
  • Relative macrocephaly
  • Short stature

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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