46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male

Abstract

We report on a Yq/15p translocation in a 23-year-old infertile male referred for Klinefelter Syndrome testing, who had azoospermia and bilateral small testes. Hormonal studies revealed hypergonadotropic hypogonadism. Conventional cytogenetic procedures giemsa trypsin giemsa (GTG) and high resolution banding (HRB) and molecular cytogenetic techniques Fluorescence In Situ Hybridization (FISH) performed on high-resolution lymphocyte chromosomes revealed the karyotype 46,XX, t(Y;15)(q12;p11). SRY-gene was confirmed to be present by classical Polymerase Chain Reaction (PCR) methods. His father carried de novo derivative chromosome 15 [45,X, t(Y;15)(q12;p11)] and was fertile; the karyotype of the father using G-band technique confirmed a reciprocal balanced translocation between chromosome Y and 15. In the proband, the der (15) has been inherited from the father because the mother had a normal karyotype (46,XX). In the proband, the der (15) could have produced genetic imbalance leading to unbalanced robertson translocation between chromosome Y and 15, which might have resulted in azoospermia and infertility in the proband. The paternal translocation might have lead to formation of imbalanced ova, which might be resulted infertility in the proband. Sister's karyotypes was normal (46,XX) while his brother was not analyzed.

46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review

“…Screening of study titles and abstracts revealed 47 articles potentially eligible for inclusion; a further assessment based on the full-text led to the exclusion of 10 papers (Figure 1). The 37 selected studies described 64 adult patients with XX male syndrome [5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41].…”

Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family

“…The prevalence of simple one-way interchromosomal insertion resulting in live birth is estimated to be sion from a fertile father with 45,X,t(Y;15)(q12;p11) to a son 46,XX,t(Y;15)(q12;p11) with SRY, who showed azoospermia [12]. Structural abnormalities of the Y chromosome have been observed in 10% to 20% of men with non-obstructive azoospermic infertility [13].…”

Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

“…The most frequent translocation of this type occurs between the heterochromatin of the long arm of chromosome Y and the short arm of chromosome 15 [1,2]. This may be the result of a frequent sequence homology based association of the 15p and Yq heterochromatin, during the pachytene stage of male meiosis [3].…”