A 45,X/47,XYY/46,XY KARYOTYPE AND Y CHROMOSOME MICRODELETION IN AN INFERTILE MALE
Bulakbasi T1, Sahin FI1,*, Yil maz Z1, Zeyneloglu HB2
*Corresponding Author: Professor Dr. Feride Iffet Sahin, Department of Medical Genetics, Faculty of Medicine, Baskent University, Kubilay Sokak No:36, Maltepe 06570, Ankara, Turkey; Tel : +90-312-2324400; Fax : +90-312-2319134; E-mail: feridesahin@hotmail.com
page: 51

INTRODUCTION

 

Infertility is an important health problem that affects about 10-15% of all couples attempting pregnancy [1,2]. Sex chromosome abnormalities are an important cause of male infertility [1,2]. Intracytoplasmic sperm injection (ICSI) is an effective therapeutic method, especially in couples with male infertility and/or unsuccessful in vitro fertilization (IVF) experiences [1]. Cytogenetic evaluation of couples prior to ICSI shows that both genders are equal ly at risk for sex chromosome abnormalities. An increased incidence of the 47,XYY karyotype in infertile males has been reported [2], although the majority of individuals with this karyotype are fertile and show normal spermato genesis [2,3]. In those males who have spermatogenetic failure, abnormalities of azoospermia factor genes in the euchromatic region on the long arm of the Y chromosome (Yq) have been reported [2]. The Yq microdeletions of azoospermia factor (AZF) regions are major causes of infertility associated with severe oligospermia and azoo spermia [4] and may also be associated with somatic and germinal gonosomal mosaicism [5-7].




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