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Glossary Sex Chromosome Aneuploidy

condition with abnormal number of X or Y chromosomes

Sex Chromosome Aneuploidy refers to a condition where an individual has an abnormal number of sex chromosomes (X or Y) instead of the typical XX or XY. This can lead to various developmental and health issues, such as Turner syndrome (45,X) or Klinefelter syndrome (47,XXY). These abnormalities can affect physical development, fertility, and sometimes cognitive function.

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research Sperm aneuploidy in infertile male patients: a systematic review of the literature

26 citations , October 2014 in “Andrologia”

This review discusses the risk factors and implications of sperm aneuploidy in males, and it reports no new clinical results; the authors highlight the importance of personalized assessment in assisted reproduction.

research Sex-limited chromosomes and non-reproductive traits

10 citations , July 2022 in “BMC Biology”

This review discusses how sex-limited chromosomes can affect non-reproductive traits in various sex determination systems and reports no new empirical results.

research Dermatologic care of patients with differences of sex development

1 citations , September 2023 in “International Journal of Women’s Dermatology”

This article discusses the teratogenic risks of skin condition treatments for individuals with DSD and notes that testosterone replacement, often used in this population, may cause acne.

research Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage

3 citations , June 2017 in “Reproductive biomedicine online”

In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.

research The genetics of autism and steroid-related traits in prenatal and postnatal life

1 citations , May 2023 in “Frontiers in Endocrinology”

This research suggests that autism's genetic links are partially related to factors influencing physiological sex differences, with rare variants interacting with placental sex differences and common variants affecting steroid-related traits.

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