Unstable ring Y chromosome in an aspermic male

Abstract

A ring Y chromosome was found in a male showing growth retardation and aspermia but normally developed external genitalia. The ring does not display either the characteristic brilliant Y fluorescence or the typical late-replicating heterochromatin.

Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation

“…According to several authors, the percentage of the aneuploid cell line would be determinant for a patient carrying a ring chromosome to assess his fertility and phenotype (Wegner et al, 1992;Pezzolo et al, 1993a;Hsu et al, 1994;Henegariu et al, 1997a;Tzancheva et al, 1999). The frequencies of the cell line without the r(Y) in father and son in interphase cells ranged from 12 to 20%, corresponding to the lower percentages obtained by other authors in similar studies (ranging from 5 to 85%) (Chandley and Edmond, 1971;Maeda et al, 1976;Taillemite et al, 1978;Steinbach et al, 1979;Kosztola ´nyi, 1988;Micic et al, 1990;Wegner et al, 1992;Hsu, 1994;Henegariu et al, 1997a;Bofinger et al, 1999;Tzancheva et al, 1999;Blanco et al, 2003).…”

Minute chromosomes replacing the Y chromosome carry Y‐specific sequences by restriction fragment analysis and in situ hybridization

“…In four of six cases mosaicism for a ring Y chromosome was present. These were phenotypically normal males with azoospermia who were ascertained because of infertility, as was patient 1 in our study [Chandley and Edmond, 1971;Chandley et al, 1975;Maeda et al, 1976;Steinbach et al, 1979;Madan et al, 19791. Mosaicism was not detected in two other males.…”

Perspectives in Pediatric Pathology, Chapter 16. Klinefelter Syndrome and other Anomalies in X and Y Chromosomes. Clinical and Pathological Entities

“…Some patients with ring Y chromosomes may present with sexual infantilism, ambiguous genitalia and hypospadias, while others have normal male phenotype and azoospermia [270]. Most show mosaicisms with a 45, X0 line in lymphocyte cultures [271].…”