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Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2015 Nov; Vol. 58 (11), pp. 629-33. Date of Electronic Publication: 2015 Oct 23. - Publication Year :
- 2015
-
Abstract
- Large chromosomal deletions from 13q13.3 to 13q21.3 have previously been associated with overgrowth. We present two patients with deletions at 13q14.2q14.3 who have macrocephaly, tall stature relative to their parents, cardiac phenotypes, and intellectual disability. This report narrows the critical region for tall stature, macrocephaly, and possibly cardiac disease.<br /> (Crown Copyright © 2015. Published by Elsevier Masson SAS. All rights reserved.)
- Subjects :
- Adolescent
Child
Growth Disorders diagnosis
Heart Diseases diagnosis
Humans
Intellectual Disability diagnosis
Male
Megalencephaly diagnosis
Syndrome
Chromosome Deletion
Chromosomes, Human, Pair 13 genetics
Growth Disorders genetics
Heart Diseases genetics
Intellectual Disability genetics
Megalencephaly genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 58
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 26475974
- Full Text :
- https://doi.org/10.1016/j.ejmg.2015.10.006