Chromosome 4q duplication
Alternate names[edit | edit source]
Duplication 4q; Trisomy 4q; 4q duplication; 4q trisomy; Partial trisomy 4q
Definition[edit | edit source]
Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4.
Cause[edit | edit source]
This condition occurs when there is an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4.
Inheritance[edit | edit source]
Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically.
Signs and symptoms[edit | edit source]
- The signs and symptoms associated with having a chromosome 4q duplication may depend on the size and location of the duplication; this affects which genes are involved.
- Since few cases of 4q duplication have been described in the literature, it is difficult to predict severity or the specific features that a person will have.
- Someone with a small duplication may be very mildly affected and have no developmental delays.
- Others, even within the same family, may have varying degrees of developmental delay, any of several types of birth defects, and/or distinctive facial features.
- While very few cases have been described, it seems that those with a very small duplication of material close to the middle of the chromosome (called a proximal duplication) are usually healthy with developmental delay and/or learning difficulties.
- Larger proximal duplications may be associated with heart or kidney problems.
- When the duplication involves material closer to the tip of the chromosome (called a distal duplication), it may be associated with thumb and kidney abnormalities, developmental delay, and distinctive facial features.
- If a chromosome 4q duplication occurs with another chromosome abnormality (such as a deletion of part of another chromosome), the severity and features in an affected person may differ and will depend on the effects of the other chromosome abnormality as well.
Diagnosis[edit | edit source]
Chromosome disorders may be suspected in people who have developmental delays, intellectual disabilities and/or physical abnormalities.
Several types of genetic tests can identify chromosome disorders:
- Karyotyping
- Microarray (also called array CGH)
- Fluorescence in situ hybridization (FISH)
Treatment[edit | edit source]
Treatment is based on the signs and symptoms present in each person.
Prognosis[edit | edit source]
- The long-term outlook (prognosis) for people with a chromosome 4q duplication depends on the size and location of the duplication.
- This affects which specific genes are involved, and how many genes are duplicated.
- Some people with a 4q duplication may be born healthy and develop well, while others may be born with any of several types of birth defects that can lead to severe complications.
- Therefore, it is not possible to predict how one person will be affected. Additionally, people with the same 4q duplication (the same location and size) may be affected very differently - even within the same family.
NIH genetic and rare disease info[edit source]
Chromosome 4q duplication is a rare disease.
Chromosome 4q duplication Resources | ||
---|---|---|
|
|
Translate to: 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
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) 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.
Contributors: Deepika vegiraju