Chromosome 7, trisomy 7q
Chromosome 7, trisomy 7q is a chromosomal abnormality involving an extra (third) copy of the long arm (q arm) of chromosome 7. This condition is a type of aneuploidy, which refers to an abnormal number of chromosomes within a cell. Trisomy 7q can lead to various developmental and physical abnormalities, depending on the extent and specific regions of chromosome 7 that are duplicated.
Causes[edit | edit source]
Trisomy 7q occurs due to a misdivision of the chromosome pair during the formation of reproductive cells (gametogenesis) or at the early stages of fetal development. This can result from a nondisjunction event, where chromosomes do not separate properly during cell division, leading to an extra copy of chromosome 7q being present.
Symptoms and Diagnosis[edit | edit source]
The symptoms of trisomy 7q can vary widely among individuals but may include intellectual disability, growth retardation, craniofacial anomalies, heart defects, and other physical abnormalities. Diagnosis is typically made through genetic testing, including karyotyping and fluorescence in situ hybridization (FISH), which can identify the specific chromosomal abnormality.
Treatment and Management[edit | edit source]
There is no cure for trisomy 7q, and treatment focuses on managing the symptoms and improving the quality of life for affected individuals. This may involve a multidisciplinary approach, including physical therapy, occupational therapy, speech therapy, and medical management of specific symptoms or conditions associated with the disorder.
Epidemiology[edit | edit source]
The prevalence of trisomy 7q is difficult to determine due to its rarity and the variability of its presentation. It is considered a rare chromosomal disorder.
Research[edit | edit source]
Research into trisomy 7q and other chromosomal abnormalities aims to better understand the genetic mechanisms underlying these conditions and to develop more effective treatments and management strategies. Advances in genetic testing and genomics are providing new insights into the causes and potential therapeutic approaches for chromosomal disorders.
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 Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
