Hindawi Publishing Corporation 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 Adrian Mc Cormack,1 Cynthia Sharpe,2 Nerine Gregersen,3 Warwick Smith,4 Ian Hayes,3 Alice M. George,1 and Donald R. Love1 1 Diagnostic 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 Correspondence should be addressed to Donald R. Love;
[email protected] 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. 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 ofthe 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.