XXXXY syndrome
XXXXY syndrome
XXXXY syndrome (pronounced: four X Y syndrome) is a rare genetic disorder that affects males. It is also known as 49,XXXXY syndrome or Fraccaro syndrome, named after the Italian geneticist Antonio Fraccaro who first described the condition in 1960.
Etymology
The name XXXXY syndrome refers to the presence of an extra three X chromosomes in a male's cells. Normally, males have one X and one Y chromosome (XY), but males with XXXXY syndrome have four X chromosomes and one Y chromosome (XXXXY).
Definition
XXXXY syndrome is a form of Klinefelter syndrome, a group of conditions affecting the sex chromosomes. It is characterized by intellectual disabilities, short stature, musculoskeletal abnormalities, and distinctive facial features.
Symptoms
Symptoms of XXXXY syndrome can vary but often include learning difficulties, delayed development, low muscle tone, and speech delays. Physical features can include small head size, short stature, underdeveloped genitals, and heart defects.
Causes
XXXXY syndrome is caused by a random error in cell division during the formation of sperm or egg cells. This results in a sperm or egg cell having an extra three X chromosomes.
Diagnosis
Diagnosis of XXXXY syndrome is typically made through a karyotype test, which analyzes a person's chromosomes.
Treatment
There is no cure for XXXXY syndrome, but treatments can help manage symptoms and improve quality of life. These may include physical therapy, speech therapy, and hormone therapy.
See also
References
External links
- Medical encyclopedia article on XXXXY syndrome
- Wikipedia's article - XXXXY syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski