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

@article{Takenouchi201212q14MS,
  title={12q14 microdeletion syndrome and short stature with or without relative macrocephaly.},
  author={Toshiki Takenouchi and Keisuke Enomoto and Toshihiko Nishida and Chiharu Torii and Tadaharu Okazaki and Takao Takahashi and Kenjiro Kosaki},
  journal={American journal of medical genetics. Part A},
  year={2012},
  volume={158A 10},
  pages={2542-4}
}
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… CONTINUE READING