How to cite this article: Goumy C, Gouas L, Tchirkov A, Roucaute T, Giollant M, Veronèse L, Francannet C, Vago P. 2008. Familial deletion 11q14.3–q22.1 without apparent phenotypic consequences: A haplosufficient 8.5 Mb region. Am J Med Genet Part A 146A:2668–2672.
Familial deletion 11q14.3–q22.1 without apparent phenotypic consequences: A haplosufficient 8.5 Mb region†
Article first published online: 16 SEP 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 20, pages 2668–2672, 15 October 2008
How to Cite
Goumy, C., Gouas, L., Tchirkov, A., Roucaute, T., Giollant, M., Veronèse, L., Francannet, C. and Vago, P. (2008), Familial deletion 11q14.3–q22.1 without apparent phenotypic consequences: A haplosufficient 8.5 Mb region. Am. J. Med. Genet., 146A: 2668–2672. doi: 10.1002/ajmg.a.32511
- Issue published online: 24 SEP 2008
- Article first published online: 16 SEP 2008
- Manuscript Accepted: 13 JUL 2008
- Manuscript Received: 3 APR 2008
- 11q14.3–q22.1 deletion;
- transmitted imbalance;
- normal phenotype
We present the prenatal diagnosis of a chromosome 11q14.3–q22.1 deletion identified in three generations without apparent phenotypic consequences. A 25-year-old G2, P1 woman underwent amniocentesis at 15 weeks' gestation because of a positive result for Down syndrome maternal serum-screening test (1/70). The fetal karyotype revealed an interstitial deletion of the long arm of chromosome 11 confirmed by CGH and FISH: 46,XX,del(11)(q14.3q22.1). The mother and grandfather of the fetus presented the same interstitial deletion with a little if any phenotype effect. The pregnancy was carried to term and resulted in the birth of a normal girl. To our knowledge, only one case of a chromosome 11q14.3–q21 deletion without phenotypic anomalies has been reported. Our study allows the initially described haplosufficient region to be extended from 3.6 Mb to at least 8.5 Mb. This large deletion was compatible with fertility and apparently normal phenotype. Identification of such chromosomal regions is important for prenatal diagnosis and genetic counseling. © 2008 Wiley-Liss, Inc.