Structural abnormalities of the Y chromosome: Genotype-phenotype correlation

ABSTRACT

The aim of this study was to correlate the structural abnormalities of the Y chromosome to its presenting clinical features to evaluate the phenotype-genotype correlation. The study was performed on 30 patients who had structural Y chromosome abnormalities. The cytogenetic methods included conventional G-banding, diamidino-2-phenylindole [DAPI] and fluorescent in situ hybridization [FISH] techniques. The structural abnormalities of the Y chromosome were a deletion of the long arm [Yq-] in 13 cases, a partial deletion of the short arm [Yp-] in 6 cases, large heterochromatin of Y [Yq+] in 6 cases, pericentric inversion in 4 cases and one case with ring Y. Their phenotypic presentations varied from complete normal male, ambiguous genitalia to complete female phenotype. The clinical presentations and cause of referral of the patients were variable including male infertility and azoospermia, primary amenorrhea, mental retardation, multiple congenital anomalies and/or dysmorphism, short stature, ambiguous genitalia, routine premarital counseling and repeated abortions