Format

Send to

Choose Destination
Case Rep Genet. 2015;2015:192071. doi: 10.1155/2015/192071. Epub 2015 Jul 22.

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

Author information

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

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.

Supplemental Content

Full text links

Icon for Hindawi Limited Icon for PubMed Central
Loading ...
Support Center