TY  - JOUR
T1  - A Rare Abnormal Male Karyotype with 46,X,DER(Y)(YQTER→P11.3::2Q2.1→QTER),DEL(2)(2PTER→11.3:)
AU  - Kavak, Fikriye Fulya
AU  - Oral, Diclehan
AU  - Balkan, Mahmut
AU  - Tekeş, Selahattin
AU  - Yücel, İlyas
AU  - Güzel Erdal, Gülbahar
AU  - Binici, Mahir
PY  - 2021
DA  - June
JF  - International Archives of Medical Research
JO  - IAMR
PB  - Veysi AKPOLAT
WT  - DergiPark
SN  - 2146-6033
SP  - 42
EP  - 46
VL  - 13
IS  - 1
LA  - en
AB  - Objective: Structural chromosomal abnormalities such as translocation in males and y deletions in the molecular missile cause infertility and related azoospermia. The aim of this study was to perform the karyotype analysis of a 51-year-old male patient who was referred to Dicle University Faculty of Medicine, Department of Medical Biology and Genetics for karyotype analysis due to primary infertility.Methods: Chromosome analysis was performed in peripheral blood culture by applying the conventional cytogenetic method and GTG banding technique.Results: Chromosome analysis a rare abnormal karyotype with 46, X, der(Y) (Yqter→p11.3::2q2.1→qter), del(2pte2q 11.3:) chromosomal structure was observed.  In thıs study, we report a case with a balanced translocation between chromosomes 2 and Y.Conclusion: The causes leading to male infertility maybe later, and some of them are of genetic origin. While chromosomal abnormalities are seen in 0.5% of the healthy population, this rate increases to 5.8% in infertile men, so it is recommended to genetically investigate all individuals with azoospermia in semen analysis.
KW  - balanced translocation
KW  - chromosome anomalies
KW  - infertility
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UR  - https://dergipark.org.tr/en/pub/iamr/issue//893696
L1  - https://dergipark.org.tr/en/download/article-file/1627162
ER  -