Roberta Onesimo and Daniela Orteschi contributed equally to this work.
Article first published online: 20 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 9, pages 2266–2271, September 2012
How to Cite
Onesimo, R., Orteschi, D., Scalzone, M., Rossodivita, A., Nanni, L., Zannoni, G. F., Marrocco, G., Battaglia, D., Fundarò, C. and Neri, G. (2012), Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions. Am. J. Med. Genet., 158A: 2266–2271. doi: 10.1002/ajmg.a.35489
How to Cite this Article: Onesimo R, Orteschi D, Scalzone M, Rossodivita A, Nanni L, Zannoni GF, Marrocco G, Battaglia D, Fundarò C, Neri, G. 2012. Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions. Am J Med Genet Part A. 158A:2266–2271.
- Issue published online: 24 AUG 2012
- Article first published online: 20 JUL 2012
- Manuscript Accepted: 21 APR 2012
- Manuscript Received: 20 FEB 2012
- chromosome 9p deletion;
- 9p deletion syndrome;
- congenital heart defect;
- gonadal dysgenesis;
- ambiguous genitalia;
- XY sex reversal;
Deletions of the short arm of chromosome 9 are associated with two distinct clinical entities. Small telomeric 9p24.3 deletions cause genital anomalies in male subjects, ranging from disorder of gonadal sex to genital differentiation anomalies, while large terminal or interstitial deletions result in 9p-malformation syndrome phenotype. The critical region for non-syndromic 46,XY sex reversal was assigned to a 1 Mb interval of chromosome 9p, extending from the telomere to the DMRT genes cluster. The 9p-syndrome was assigned to bands 9p22.3p24.1, but a phenotypic map has not been established for this condition, probably because of the lack of detailed molecular and/or phenotypic characterization, as well as frequent involvement of additional chromosome rearrangements. Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array-CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p-syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy. The observed deletion includes the 46,XY sex-reversal critical region, excluding the region so far associated with the 9p-syndrome. Genotype–phenotype correlations are tentatively established comparing our patient to seven other previously reported males with isolated terminal 9p deletions, finely defined at a molecular level. Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p-syndrome critical region. © 2012 Wiley Periodicals, Inc.