Isodicentric Ychromosome: Case Study

Isodicentric chromosomes are a frequently appearing abnormality in the human Y chromosome. Making predictions regarding the phenotypic outcomes of a variety of duplications/deletions in the dicentric Y chromosome generally depends on the breakpoint location and also the level of mosaicism (45, X cell lines); in certain instances, these may not be detected and result in variations running between male, abnormal female, or ambiguity in individual genitalia. A referral was received from a urology clinic concerning two patients, one aged 34 and one aged 35, with a request to investigate reasons for infertility: G-banded karyotyping and fluorescence in situ hybridization (FISH) revealed the presence of an isodicentric Y chromosome.