The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.

Hdl Handle:
http://hdl.handle.net/10147/138773
Title:
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
Authors:
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; Costigan, Colm; Lam, Wayne; Fitzpatrick, David R; Regan, Regina; Ennis, Sean; Sharkey, Freddie
Affiliation:
National Centre for Medical Genetics, Our Lady's Childrens Hospital, Dublin, Ireland. Sallyann.lynch@olchc.ie
Citation:
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. 2011, 19 (5):534-9 Eur. J. Hum. Genet.
Journal:
European journal of human genetics : EJHG
Issue Date:
May-2011
URI:
http://hdl.handle.net/10147/138773
DOI:
10.1038/ejhg.2010.215
PubMed ID:
21267005
Additional Links:
http://www.ncbi.nlm.nih.gov/pubmed/21267005
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.
Item Type:
Article
Language:
en
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
ISSN:
1476-5438

Full metadata record

DC FieldValue Language
dc.contributor.authorLynch, Sally Annen
dc.contributor.authorFoulds, Nicolaen
dc.contributor.authorThuresson, Ann-Charlotteen
dc.contributor.authorCollins, Amanda Len
dc.contributor.authorAnnerén, Göranen
dc.contributor.authorHedberg, Bernt-Ovesen
dc.contributor.authorDelaney, Carol Aen
dc.contributor.authorIremonger, Jamesen
dc.contributor.authorMurray, Caroline Men
dc.contributor.authorCrolla, John Aen
dc.contributor.authorCostigan, Colmen
dc.contributor.authorLam, Wayneen
dc.contributor.authorFitzpatrick, David Ren
dc.contributor.authorRegan, Reginaen
dc.contributor.authorEnnis, Seanen
dc.contributor.authorSharkey, Freddieen
dc.date.accessioned2011-08-03T15:14:09Z-
dc.date.available2011-08-03T15:14:09Z-
dc.date.issued2011-05-
dc.identifier.citationThe 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. 2011, 19 (5):534-9 Eur. J. Hum. Genet.en
dc.identifier.issn1476-5438-
dc.identifier.pmid21267005-
dc.identifier.doi10.1038/ejhg.2010.215-
dc.identifier.urihttp://hdl.handle.net/10147/138773-
dc.description.abstractWe 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.-
dc.language.isoenen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/21267005en
dc.subject.meshAbnormalities, Multiple-
dc.subject.meshAdolescent-
dc.subject.meshBody Height-
dc.subject.meshChild-
dc.subject.meshChild, Preschool-
dc.subject.meshChromosome Deletion-
dc.subject.meshChromosome Disorders-
dc.subject.meshChromosomes, Human, Pair 12-
dc.subject.meshDwarfism-
dc.subject.meshFemale-
dc.subject.meshHMGA2 Protein-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshSilver-Russell Syndrome-
dc.subject.meshSyndrome-
dc.titleThe 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.en
dc.typeArticleen
dc.contributor.departmentNational Centre for Medical Genetics, Our Lady's Childrens Hospital, Dublin, Ireland. Sallyann.lynch@olchc.ieen
dc.identifier.journalEuropean journal of human genetics : EJHGen
dc.description.provinceLeinster-

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