Klinefelter syndrome
Học thuậtThân thiện
Definition
- Noun:
- A genetic condition affecting males: Klinefelter syndrome is a chromosomal disorder where a male is born with an extra X chromosome (XXY instead of the typical XY). This leads to a range of physical and developmental characteristics.
- A syndrome with specific features: The condition is typically characterized by underdeveloped testes, reduced testosterone and sperm production, possible breast enlargement (gynecomastia), taller than average stature with long legs, and potential learning or developmental challenges.
Usage Examples
- Noun:
- Klinefelter syndrome is one of the most common chromosomal disorders.
- Diagnosis of Klinefelter syndrome often occurs during adulthood when investigating infertility.
- Boys with Klinefelter syndrome may benefit from early educational support.
Advanced Usage
"47,XXY": This is the formal chromosomal notation for the most common form of Klinefelter syndrome, indicating 47 chromosomes with an XXY sex chromosome complement.
- The karyotype confirmed a diagnosis of 47,XXY Klinefelter syndrome.
"XXY syndrome": An alternative, less formal name for the condition.
- Support groups provide resources for individuals with XXY syndrome.
Variants and Related Words
- Klinefelter's syndrome: A variant spelling using the possessive form.
- The older medical literature often refers to Klinefelter's syndrome.
Synonyms
- 47,XXY: The scientific karyotype designation.
- XXY syndrome: A descriptive synonym.
Notes on Meaning
This term refers specifically to a genetic condition. It is a proper noun, named after Dr. Harry Klinefelter. The core meaning is always tied to the presence of an extra X chromosome in a male and its associated effects. It is not used metaphorically.
Noun
- syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male