Phenotypic variability in isodicentric Y patients: study of nine cases

Isodicentric chromosomes are the most commonly reported aberrations of the human Y chromosome. As they are unstable during cell division and can generate various types of cell lines, most reported patients are chromosomal mosaics, generally including a 45,X cell line. Phenotypes depend on the location of the breakpoints as well as on the proportion of each cell line and vary from male to abnormal female or individual with ambiguous genitalia. Although phenotypic variability is known to also depend on the degree of mosaicism in the various tissues, gonads are rarely studied. We report nine cases of isodicentric Y chromosomes studied by conventional and molecular cytogenetic: three males, five females, and one individual with sexual ambiguity. Two males had a non‐mosaic karyotype, while the third male was a mosaic with a predominant 46,XY cell line. Three of the females had a major 45,X cell line, while the last two females and the patient with ambiguous genitalia had a major 46,X,idic(Y) cell line. Analyses of gonadal tissues from the individual with sexual ambiguity and of three of the five female patients gave results concordant with their phenotype, allowing us to better understand the sexual differentiation of these patients.