Definition

Noun: A genetic condition affecting females, characterized by the complete or partial absence of one of the two X chromosomes. This chromosomal disorder typically results in specific physical features and medical issues, including short stature, potential heart defects, and underdeveloped ovaries.

Usage

The term is used as a proper noun (often capitalized) in medical and biological contexts to name a specific genetic syndrome. * A diagnosis of Turner syndrome is usually confirmed by a genetic test called a karyotype. * Turner syndrome can affect physical development and reproductive health. * Management of Turner syndrome often involves growth hormone therapy and cardiac monitoring.

Advanced Usage

• The condition is named after Dr. Henry Turner, who described it in 1938. While "Turner's syndrome" (with an apostrophe 's') is a common traditional form, the modern medical convention often omits the apostrophe, writing it as "Turner syndrome."
• It is often discussed in contrast to other chromosomal disorders, such as Klinefelter syndrome (which affects males).

Variants and Related Words

• Monosomy X: A more technical genetic term describing the specific chromosomal makeup (45,X) responsible for most cases of Turner syndrome.
• Gonadal dysgenesis: A related medical term referring to the underdevelopment of the ovaries, which is a common feature of the syndrome.

Synonyms

• 45,X syndrome: A synonym based on the specific chromosomal karyotype.
• Ullrich-Turner syndrome: A less common synonym that also acknowledges the work of Dr. Otto Ullrich.

Related Phrases

• Diagnosed with Turner syndrome: The standard phrase for receiving a medical confirmation of the condition.
• Features of Turner syndrome: A phrase used to describe the common signs and symptoms associated with the disorder.

Noun

1. a chromosomal disorder in females who have only one X chromosome; marked by dwarfism and heart abnormalities and underdeveloped sex organs