Turner Syndrome

Definition

Turner Syndrome is a chromosomal disorder that affects females, characterized by the absence or abnormality of one of the X chromosomes. This condition results in various physical and developmental features, including short stature, delayed puberty, and infertility. Turner Syndrome connects to chromosomal abnormalities and variations as it stems from nondisjunction during meiosis, leading to missing or incomplete sex chromosomes.

5 Must Know Facts For Your Next Test

1. Turner Syndrome occurs in about 1 in 2,500 live female births and is often identified through genetic testing or karyotyping.
2. Common physical features of Turner Syndrome include webbed neck, low-set ears, and broad chest with widely spaced nipples.
3. Many individuals with Turner Syndrome may experience heart defects and kidney problems that require medical attention.
4. Hormone replacement therapy is frequently used to address growth and puberty delays in individuals with Turner Syndrome.
5. While Turner Syndrome can lead to infertility, some women with the condition may still conceive through assisted reproductive technologies.

Review Questions

• How does Turner Syndrome exemplify the concept of chromosomal abnormalities?
  • Turner Syndrome exemplifies chromosomal abnormalities by showcasing a specific type of monosomy, where one X chromosome is either completely missing or structurally altered. This abnormality results from nondisjunction during meiosis, which disrupts the normal chromosomal count in affected individuals. The absence of one X chromosome leads to various developmental and health challenges that are characteristic of Turner Syndrome.
• Discuss the implications of Turner Syndrome on an individual's physical development and health.
  • Turner Syndrome significantly impacts an individual's physical development, often leading to short stature, delayed puberty, and distinctive physical features such as a webbed neck and low-set ears. Additionally, those with the syndrome face increased risks for certain health issues, including heart defects and kidney problems. These implications necessitate regular medical evaluations and potential interventions to manage health concerns effectively.
• Evaluate the social and psychological challenges faced by individuals with Turner Syndrome and how these challenges relate to their physical traits.
  • Individuals with Turner Syndrome may face social and psychological challenges due to their physical traits and associated health issues. For instance, short stature and distinctive physical features can impact self-esteem and social interactions during formative years. The need for medical interventions, such as hormone therapy, can also contribute to feelings of being different from peers. Addressing these challenges requires supportive environments that promote acceptance and understanding while providing resources for emotional well-being.

Related terms

Monosomy: A genetic condition where one chromosome is missing from a pair, such as in Turner Syndrome where one X chromosome is absent.

Karyotype: A visual representation of an individual's chromosomes, used to identify chromosomal abnormalities such as those seen in Turner Syndrome.

Nondisjunction: The failure of homologous chromosomes to separate properly during cell division, which can lead to conditions like Turner Syndrome.