TITLE:
Isodicentric Ychromosome: Case Study
AUTHORS:
Amal Al Wathnani, Suha Tashkandi, Khelad Al Saidi, Kholoud Al Muteiri, Wasmaya Al Enezi
KEYWORDS:
Isodicentric Y, Mosaicism, Fluorescence in Situ Hybridization, SRY, G-Banded Karyotyping, Infertility
JOURNAL NAME:
Open Journal of Genetics,
Vol.11 No.3,
September
30,
2021
ABSTRACT: 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.