About
Contact & Profiles
A5106619873
Research Areas
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- LGBTQ Health, Identity, and Policy
- Prenatal Screening and Diagnostics
University of British Columbia
2024
ABSTRACT Sex chromosome aneuploidies (SCAs) are a family of genetic disorders that result from an atypical number X and/or Y chromosomes. SCAs the most common chromosomal abnormality, affecting ∼1/400 live births, yet often underdiagnosed, leading to over-representation more severely impacted individuals in many clinical studies. In addition this ascertainment bias, existing work has also been limited by low geographic and demographic diversity. To address these limitations, we have created...
10.1101/2024.08.14.24311888
preprint
EN
medRxiv (Cold Spring Harbor Laboratory)
2024-08-14
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