Phd human genetics.
Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD)†
Article first published online: 24 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 7, pages 1594–1603, July 2012
How to Cite
Mekkawy, M., Kamel, A., El-Ruby, M., Mohamed, A., Essawi, M., Soliman, H., Dessouky, N., Shehab, M. and Mazen, I. (2012), Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD). Am. J. Med. Genet., 158A: 1594–1603. doi: 10.1002/ajmg.a.35487
How to Cite this Article: Mekkawy M, Kamel A, El-Ruby M, Mohamed A, Essawi M, Soliman H, Dessouky N, Shehab M, Mazen I. 2012. Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD). Am J Med Genet Part A. 158A:1594–1603.
- Issue published online: 18 JUN 2012
- Article first published online: 24 MAY 2012
- Manuscript Accepted: 26 APR 2012
- Manuscript Received: 6 OCT 2011
- disorders of sex development;
- isodicentric Y;
- FISH analysis;
- SRY sequencing
Isodicentric chromosome formation is the most common structural abnormality of the Y chromosome. As dicentrics are mitotically unstable, they are subsequently lost during cell division resulting in mosaicism with a 45,X cell line. We report on six patients with variable signs of disorders of sex development (DSD) including ambiguous genitalia, short stature, primary amenorrhea, and male infertility with azoospermia. Cytogenetic studies showed the presence of a sex chromosome marker in all patients; associated with a 45,X cell line in five of them. Fluorescence in situ hybridization (FISH) technique was used to determine the structure and the breakage sites of the markers that all proved to be isodicentric Y chromosomes. Three patients, were found to have similar breakpoints: idic Y(qter→ p11.32:: p11.32→ qter), two of them presented with ambiguous genitalia and were found to have ovotesticular DSD, while the third presented with short stature and hypomelanosis of Ito. One female patient presenting with primary amenorrhea, Turner manifestations and ambiguous genitalia revealed the breakpoint: idic Y (pter→q11.1::q11.1→pter). The same breakpoint was detected in a male with azoospermia but in non-mosaic form. An infant with ambiguous genitalia and mixed gonadal dysgenesis (MGD) had the breakpoint at Yq11.2: idic Y(pter→q11.2::q11.2→pter). SRY signals were detected in all patients. Sequencing of the SRY gene was carried out for three patients with normal results. This study emphasizes the importance of FISH analysis in the diagnosis of patients with DSD as well as the establishment of the relationship between phenotype and karyotype. © 2012 Wiley Periodicals, Inc.