The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
Lynch, Sally Ann Foulds, Nicola Thuresson, Ann-Charlotte Collins, Amanda L Annerén, Göran Hedberg, Bernt-Oves Delaney, Carol A Iremonger, James Murray, Caroline M Crolla, John A
Lynch, Sally Ann
Foulds, Nicola
Thuresson, Ann-Charlotte
Collins, Amanda L
Annerén, Göran
Hedberg, Bernt-Oves
Delaney, Carol A
Iremonger, James
Murray, Caroline M
Crolla, John A
Advisors
Editors
Other Contributors
Date
2011-05
Date Submitted
Keywords
Other Subjects
Subject Mesh
Abnormalities, Multiple
Adolescent
Body Height
Child
Child, Preschool
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 12
Dwarfism
Female
HMGA2 Protein
Humans
Male
Silver-Russell Syndrome
Syndrome
Adolescent
Body Height
Child
Child, Preschool
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 12
Dwarfism
Female
HMGA2 Protein
Humans
Male
Silver-Russell Syndrome
Syndrome
Planned Date
Start Date
Collaborators
Principal Investigators
Alternative Titles
Publisher
Abstract
We report six patients with array deletions encompassing 12q14. Out of a total of 2538 array investigations carried out on children with developmental delay and dysmorphism in three diagnostic testing centres, six positive cases yielded a frequency of 1 in 423 for this deletion syndrome. The deleted region in each of the six cases overlaps significantly with previously reported cases with microdeletions of this region. The chromosomal range of the deletions extends from 12q13.3q15. In the current study, we report overlapping deletions of variable extent and size but primarily comprising chromosomal bands 12q13.3q14.1. Four of the six deletions were confirmed as de novo events. Two cases had deletions that included HMGA2, and both children had significant short stature. Neither case had osteopoikilosis despite both being deleted for LEMD3. Four cases had deletions that ended proximal to HMGA2 and all of these had much better growth. Five cases had congenital heart defects, including two with atrial septal defects, one each with pulmonary stenosis, sub-aortic stenosis and a patent ductus. Four cases had moderate delay, two had severe developmental delay and a further two had a diagnosis of autism. All six cases had significant speech delay with subtle facial dysmorphism.
Language
en
ISSN
1476-5438
eISSN
ISBN
DOI
10.1038/ejhg.2010.215
PMID
21267005