FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male

التفاصيل البيبلوغرافية
العنوان: FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male
المؤلفون: Alexander N. Yatsenko, Ewa Wiland, Maciej Kurpisz, Agata Zdarta, Halina Stanczak, Marta Olszewska, Jan Karol Wolski, Archana Kishore, Marcin Ligaj
المصدر: Reproductive BioMedicine Online. 31:217-224
بيانات النشر: Elsevier BV, 2015.
سنة النشر: 2015
مصطلحات موضوعية: Adult, Male, endocrine system, congenital, hereditary, and neonatal diseases and abnormalities, Biology, Y chromosome, Article, Meiosis, Chromosome Duplication, Gene duplication, medicine, Humans, Metaphase, In Situ Hybridization, Fluorescence, Azoospermia, Genetics, Comparative Genomic Hybridization, Chromosomes, Human, Y, Obstetrics and Gynecology, Karyotype, medicine.disease, Molecular biology, Testis determining factor, Reproductive Medicine, Chromosome Deletion, Developmental Biology, Comparative genomic hybridization
الوصف: This study presents a 28-year-old infertile male who was referred to the cytogenetic laboratory for chromosomal analysis after 4 years of regular unprotected intercourse in whom non-obstructive azoospermia was revealed. Standard cytogenetic G-banding was performed on metaphase spreads and a de-novo karyotype 46,X,der(Y)(q11.22;p11.3) was identified. This analysis was followed by flourescence in-situ hybridization(FISH) and array comparative genomic hybridization (aCGH). Finally, the patient's karyotype was identified as 46,X,der(Y)(qter→q11.221::p11.31→qter).ish der(Y) (qter+,pter-,SHOX+,SRY+,Ycen+,DYZ3+;DYZ1+,qter+).arrYq11.221q12(14,448,863-59,288,511) x2, Yp11.32p11.31(104,062-266,388) x0. It is proposed that de-novo derivative monocentric Y chromosome with duplicated region Y qter→q11.221::p11.31→qter with partial deletion of Yp PAR1 region most probably can perturb the conjugation of sex chromosomes during first meiotic division of spermatogenic arrested differentiation (development).
تدمد: 1472-6483
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7ae400736078560f53a4bd252bbd2aTest
https://doi.org/10.1016/j.rbmo.2015.04.014Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....7f7ae400736078560f53a4bd252bbd2a
قاعدة البيانات: OpenAIRE