1q21.1 deletion syndrome
From WikiMD's Wellness Encyclopedia
1q21.1 deletion syndrome is a rare genetic disorder that results from a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 1 at a location designated q21.1. The signs and symptoms of 1q21.1 deletion syndrome are highly variable, even among affected individuals in the same family.
Signs and Symptoms[edit | edit source]
Common signs and symptoms of 1q21.1 deletion syndrome include mild to moderate intellectual disability, microcephaly (small head size), and characteristic facial features. These facial features can include a large forehead, widely spaced eyes, a narrow face, and a pointed chin. Some affected individuals have heart defects, such as tetralogy of Fallot or an atrial septal defect.
Causes[edit | edit source]
1q21.1 deletion syndrome is caused by a deletion of genetic material from a specific region in the long arm of chromosome 1. The deletion occurs near the end of the chromosome at a location designated q21.1. This region contains several genes that likely contribute to the features of 1q21.1 deletion syndrome.
Diagnosis[edit | edit source]
Diagnosis of 1q21.1 deletion syndrome is typically made through a blood test that can detect small deletions in chromosomes that would not be seen using traditional karyotyping techniques. This test is called microarray-based comparative genomic hybridization (aCGH).
Treatment[edit | edit source]
There is currently no cure for 1q21.1 deletion syndrome. Treatment is symptomatic and supportive, focusing on the specific symptoms in each individual. This can include educational support for those with learning disabilities, therapy for speech and language delays, and regular monitoring for potential health complications.
See Also[edit | edit source]
References[edit | edit source]
1q21.1 deletion syndrome Resources | ||
---|---|---|
|
|
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
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 is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
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