Turner Syndrome: Genetic Basis, Risk Factors, Complications, Prenatal Diagnosis, Management, and Genetic Counseling
Genetic Basis of Turner Syndrome: Chromosomal Abnormalities, Monosomy X, and Mosaicism
Turner Syndrome is a genetic disorder affecting females, characterized by chromosomal abnormalities such as Monosomy X and Mosaicism. Proper diagnosis and management, including hormone therapy and genetic counseling, help improve patient outcomes.
Turner Syndrome: Genetic Basis, Risk Factors, Complications, and Management
Genetic Basis of Turner Syndrome
Turner Syndrome (TS) is a genetic disorder characterized by complete or partial absence of one X chromosome in females. The most common chromosomal abnormalities associated with TS include Monosomy X, in which one X chromosome is entirely missing, and Mosaicism, where some cells contain two X chromosomes while others have only one.
Risk Factors
- Occurs exclusively in females.
- Not typically inherited but results from random chromosomal errors.
- Increased risk in pregnancies with advanced maternal age.
Complications
Individuals with Turner Syndrome may experience various medical complications, including congenital heart defects, hypothyroidism, skeletal abnormalities, and infertility due to ovarian dysfunction.
Prenatal Diagnosis and Management
Turner Syndrome can be detected prenatally using chorionic villus sampling and amniocentesis. Management includes hormone replacement therapy, cardiovascular monitoring, and psychological support.
Genetic Counseling
Genetic counseling plays a crucial role in educating patients and families about Turner Syndrome, assisting with reproductive planning, and addressing psychosocial concerns.
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