1q21.1 deletion syndrome
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| 1q21.1 deletion syndrome | |
|---|---|
| |
| Synonyms | 1q21.1 microdeletion syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, intellectual disability, congenital heart defects, schizophrenia, autism spectrum disorder |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, chromosomal microarray analysis |
| Differential diagnosis | 1q21.1 duplication syndrome, other chromosomal abnormalities |
| Prevention | |
| Treatment | Supportive care, special education, therapy |
| Medication | |
| Prognosis | Variable |
| Frequency | 1 in 5,000 to 1 in 10,000 |
| Deaths | |
1q21.1 deletion syndrome is a rare genetic disorder caused by a deletion of a small segment of chromosome 1. This deletion occurs at the q21.1 region, which is located on the long arm of the chromosome. The syndrome is associated with a variety of clinical features, which can vary widely among affected individuals.
Genetic Basis
The 1q21.1 deletion involves the loss of a segment of DNA that contains several genes. The size of the deletion can vary, but it typically spans approximately 1.35 megabases. This region includes several important genes, such as GJA5, CHD1L, and BCL9. The deletion can occur de novo or be inherited from a parent who carries the deletion but may not show any symptoms.
Clinical Features
Individuals with 1q21.1 deletion syndrome may exhibit a range of symptoms, including:
- Developmental delay
- Intellectual disability
- Autism spectrum disorder
- Congenital heart defects
- Microcephaly
- Seizures
The severity of these symptoms can vary significantly, even among members of the same family.
Diagnosis
Diagnosis of 1q21.1 deletion syndrome is typically made using genetic testing methods such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH). These tests can identify the presence of the deletion and help in understanding the genetic basis of the individual's symptoms.
Management
There is no cure for 1q21.1 deletion syndrome, and treatment is focused on managing the symptoms. This may include:
- Speech therapy and occupational therapy for developmental delays
- Special education services
- Medications to control seizures
- Surgical interventions for congenital heart defects
See Also
Transform your life with W8MD's budget GLP-1 injections from $125.
W8MD offers a medical weight loss program to lose weight in Philadelphia. Our physician-supervised medical weight loss provides:
- Most insurances accepted or discounted self-pay rates. We will obtain insurance prior authorizations if needed.
- Generic GLP1 weight loss injections from $125 for the starting dose.
- Also offer prescription weight loss medications including Phentermine, Qsymia, Diethylpropion, Contrave etc.
NYC weight loss doctor appointments
Start your NYC weight loss journey today at our NYC medical weight loss and Philadelphia medical weight loss clinics.
- Call 718-946-5500 to lose weight in NYC or for medical weight loss in Philadelphia 215-676-2334.
- Tags:NYC medical weight loss, Philadelphia lose weight Zepbound NYC, Budget GLP1 weight loss injections, Wegovy Philadelphia, Wegovy NYC, Philadelphia medical weight loss, Brookly weight loss and Wegovy NYC
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
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
