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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD)
American Journal of Medical Genetics, Part A, Volume 158 A, No. 7, Year 2012
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Description
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.
Authors & Co-Authors
Mekkawy, Mona Kamal
Egypt, Giza
National Research Centre
Kamel, Alaa Khalil
Egypt, Giza
National Research Centre
El-Ruby, Mona Omar
Egypt, Giza
National Research Centre
Mohamed, Amal Mahmoud
Egypt, Giza
National Research Centre
Essawi, Mona Lotfi
Egypt, Giza
National Research Centre
Soliman, Hala Nasr
Egypt, Giza
National Research Centre
Dessouky, Nabil M.
Egypt, Giza
Cairo University
Shehab, Marwa I.K.
Egypt, Giza
National Research Centre
Mazen, I. M.
Egypt, Giza
National Research Centre
Statistics
Citations: 12
Authors: 9
Affiliations: 2
Identifiers
Doi:
10.1002/ajmg.a.35487
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Sexual And Reproductive Health
Participants Gender
Male
Female