Distal trisomy 10q
Distal Trisomy 10q[edit | edit source]
Distal Trisomy 10q is a rare chromosomal disorder caused by the duplication of genetic material from the distal region of the long arm (q arm) of Chromosome 10. This condition is characterized by a variety of physical and developmental abnormalities, which can vary widely among affected individuals.
Genetic Basis[edit | edit source]
Distal Trisomy 10q occurs when there is an extra copy of a segment of the q arm of Chromosome 10. This duplication can result from a chromosomal translocation, inversion, or other chromosomal rearrangements during meiosis. The specific size and location of the duplicated segment can influence the severity and type of symptoms experienced by the individual.
Clinical Features[edit | edit source]
Individuals with Distal Trisomy 10q may present with a range of clinical features, including:
- Developmental delay and intellectual disability
- Distinctive facial features such as a broad forehead, wide-set eyes, and a flat nasal bridge
- Congenital heart defects
- Growth retardation
- Hypotonia (reduced muscle tone)
- Seizures
The severity of these symptoms can vary, and not all individuals will exhibit all features.
Diagnosis[edit | edit source]
Diagnosis of Distal Trisomy 10q is typically made through genetic testing, such as karyotyping or chromosomal microarray analysis. These tests can identify the presence of an extra chromosomal segment on the q arm of Chromosome 10.
Management[edit | edit source]
There is no cure for Distal Trisomy 10q, and treatment is focused on managing symptoms and providing supportive care. This may include:
- Early intervention programs and special education services
- Physical and occupational therapy
- Medical management of heart defects and other associated health issues
Prognosis[edit | edit source]
The prognosis for individuals with Distal Trisomy 10q varies depending on the severity of symptoms and the presence of associated health conditions. With appropriate medical care and support, many individuals can lead fulfilling lives.
Related Pages[edit | edit source]
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
