A rare case of telomeric association between Y and 19 chromosomes in a 24-year-old patient with primary ovarian insufficiency is being reported. Clinical evaluation revealed a webbed neck, high-arched palate and short stature with absence of axillary hair. Small uterus and streak gonads were noted on pelvic ultrasonography. Cytogenetic analysis showed a mosaic karyotype 46,X,tas(Y;19)(p11.3;q13.4)/45,X with two centromeres on the derivative chromosome. Fluorescence in situ hybridization (FISH) for X and Y centromere, SRY gene and subtelomeric FISH showed that signals for SRY and heterochromatin of Y chromosome were found at the base of chromosome 19 and the subtelomere regions of 19q and Yp were intact. Multiplex polymerase chain reaction was done to check for common microdeletions in AZF region and showed no microdeletion. Due to the presence of Y chromosome, laparoscopic examination followed by gonadal histopathology was done and confirmed the presence of ovotestes. Gonadectomy was performed to avoid future risk of gonadoblastoma. Artificial reproductive techniques using donor oocytes was suggested to the couple.

This study aimed to identify the cause of azoospermia in a 38-year-old infertile man who was referred for genetic testing. Cytogenetic evaluation was performed by G-banding, C-banding, and FISH using centromeric probes for chromosomes X and Y and showed the presence of a monocentric isochromosome Y with a complex, mosaic karyotype 45,X/46,X,i(Y)(q10)/46,XX/47,XX,i(Y)(q10). Multiplex PCR for the commonly deleted genes in the AZFa, AZFb, and AZFc regions of the Y chromosome was performed and indicated the presence of all 3 regions. Further, PCR amplification followed by DNA sequencing of the SRY gene was done, which ruled out mutations in that gene. To identify the position of the SRY gene, FISH using a locus-specific probe was used and showed that the gene had been translocated to chromosome 3. Subtelomere FISH for 3q and Yp evidenced that the subtelomeric region of the Y chromosome was found on the terminal region of 3q. The clinical symptoms of the patient can be attributed to this abnormal genotype. The importance of genetic testing in infertile patients and the need for genetic counselling to prevent the transmission of the defect are emphasized.