FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male
| Autor: | Alexander N. Yatsenko, Ewa Wiland, Maciej Kurpisz, Agata Zdarta, Halina Stanczak, Marta Olszewska, Jan Karol Wolski, Archana Kishore, Marcin Ligaj |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
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 |
| Zdroj: | Reproductive BioMedicine Online. 31:217-224 |
| ISSN: | 1472-6483 |
| DOI: | 10.1016/j.rbmo.2015.04.014 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect