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Case Reports in Genetics
Volume 2015, Article ID 192071, 7 pages
http://dx.doi.org/10.1155/2015/192071
Case Report

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

1Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand
2Department of Neuroservices, Starship Children’s Health, Private Bag 92024, Auckland 1142, New Zealand
3Genetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand
4Middlemore Hospital, Private Bag 93311, Otahuhu, Auckland 1640, New Zealand

Received 16 April 2015; Revised 7 July 2015; Accepted 7 July 2015

Academic Editor: Patrick Morrison

Copyright © 2015 Adrian Mc Cormack et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to previously published cases, one patient has haploinsufficiency of the HMGA2 gene and shows severe short stature and developmental delay. The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly. This patient’s deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.