What is Turner syndrome?

Updated: Mar 19, 2021
  • Author: Maala S Daniel, MBBS; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

Turner syndrome is one of the most common chromosomal abnormalities, occurring in approximately 1 in 2000 live-born female infants. [1, 2] Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome.

Generalized lymphedema is seen here in an infant w Generalized lymphedema is seen here in an infant with Turner syndrome. The loose skin folds around the neck will form a webbed neck later in life.

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