How to cite this article: Schluth C, Gesny R, Borck G, Redon R, Abadie V, Kleinfinger P, Munnich A, Lyonnet S, Colleaux L. 2007. New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation. Am J Med Genet Part A 146A:93–96.
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Clinical Report
New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation†
Article first published online: 11 DEC 2007
DOI: 10.1002/ajmg.a.31869
Copyright © 2007 Wiley-Liss, Inc.
Additional Information
How to Cite
Schluth, C., Gesny, R., Borck, G., Redon, R., Abadie, V., Kleinfinger, P., Munnich, A., Lyonnet, S. and Colleaux, L. (2008), New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation. Am. J. Med. Genet., 146A: 93–96. doi: 10.1002/ajmg.a.31869
- †
Publication History
- Issue published online: 19 DEC 2007
- Article first published online: 11 DEC 2007
- Manuscript Accepted: 22 APR 2007
- Manuscript Received: 7 JUN 2006
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Keywords:
- 12(q15-q21) deletion;
- CGH-array;
- mental retardation;
- facial dysmorphism
Abstract
Interstitial deletions of the long arm of chromosome 12 are rare rearrangements with only 15 cases reported in the literature. The phenotype may include facial dysmorphism, developmental delay, ectodermal abnormalities, cardiac and renal malformations depending on breakpoints' position. Here, we describe a third case of 12(q15-q21.2) deletion ascertained through CGH-array analyses and provide a 5-year follow-up. The patient presented with pre- and postnatal growth retardation, congenital heart defect, developmental delay, and facial dysmorphism changing with age, underlining the importance of long-term follow-up. We compared this new case with previous observations of 12q deletions in order to propose phenotype–karyotype correlations. © 2007 Wiley-Liss, Inc.