Dicentric Y chromosome in an azoospermic male

• Published in: Molecular human reproduction Vol. 3; no. 8; pp. 709 - 712
• Main Authors: YOSHIDA, A, NAKAHORI, Y, KUROKI, Y, MOTOYAMA, M, ARAKI, Y, MIURA, K, SHIRAI, M
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.08.1997
• Subjects: Adult; Biological and medical sciences; Birth control; Chromosome Banding; Chromosome Mapping; Female; Genetic Markers; Gynecology. Andrology. Obstetrics; Humans; Karyotyping; Male; Medical sciences; Nuclear Proteins; Oligospermia - genetics; Oligospermia - pathology; Polymerase Chain Reaction - methods; Proteins - genetics; RNA-Binding Proteins - genetics; Sex Chromosome Aberrations; Spermatocytes - pathology; Sterility. Assisted procreation; Testis - pathology; Y Chromosome; Chromosomal aberration; Genetic mapping; Human; Abnormal sex chromosome; Male; Y-Chromosome; Dicentric chromosome; Developmental arrest; Case study; Azoospermia; Spermatocyte; Spermatogenesis disorders; Cytogenetics; Deletion; Abnormal chromosome; Genetics; Male sterility; Mosaicism; Male genital diseases; Karyotype
• ISSN: 1360-9947; 1460-2407; 1460-2407
• DOI: 10.1093/molehr/3.8.709

We describe a 28 year old male with a pseudodicentric Y chromosome who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte, as diagnosed by testicular biopsy. Chromosome analysis, using G, Q and C banding techniques, revealed an abnormal karyotype of 45,X[7]/46,X,psu dic (Y)(pter-->q11.2::q11.2-->pter)[33]. Polymerase chain reaction (PCR) DNA analysis did not detect the absence of DAZ and RBM1 which are candidates for azoospermic factor (AZF) genes. Therefore, it is suggested that the maturation arrest of the primary spermatocyte in this patient was caused either by a pairing dysfunction between the X and Y chromosomes during meiosis or by deletions in the autosomal or the Y chromosomal spermatogenesis controlling genes, excluding DAZ and RBM1.