Chromosome 17q11.2 deletion syndrome
(Redirected from Del(17)(q11))
Other Names: Chromosome 17q11.2 deletion syndrome, 1.4Mb ; VAN ASPEREN SYNDROME; Del(17)(q11); Neurofibromatosis type 1 microdeletion syndrome; Monosomy 17q11; NF1 microdeletion syndrome; 17q11 microdeletion syndrome
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
Epidemiology[edit | edit source]
The prevalence of 17q11 microdeletion syndrome is not known. About 5% of NF1 cases are reported to have deletions of the entire NF1 gene. More than 170 affected patients have been reported to date.
Cause[edit | edit source]
Germline and mosaic microdeletions of the NF1 gene and its flanking regions caused by non-allelic homologous recombination are reported in patients with this disorder. Most occur de novo.
Inheritance[edit | edit source]
As most cases are de novo, recurrence risk for offspring of unaffected parents is very low. Affected individuals have a 50% risk of transmitting the microdeletion, and prenatal and preimplantation genetic diagnosis is possible.
Signs and symptoms[edit | edit source]
Affected individuals often have unusual body habitus and facial dysmorphism including facial coarsening, prominent forehead, ptosis, down-slanting palpebral fissures, hypertelorism, broad nose and nasal bridge, low set ears, and micrognathia.
Patients develop a large number of neurofibromas, often with early onset, including multiple cutaneous neurofibromas, and less commonly plexiform neurofibromas. Other characteristic features include attention deficit/hyperactivity disorder (AD/HD), delayed cognitive development and intellectual disability.
Some patients are reported to have microcephaly or macrocephaly, optic pathway glioma, iris coloboma (see these terms), heart defects (mitral valve prolapse, aortic dilatation), large hands and feet, connective tissue dysplasia (joint hyperflexibility, soft palm skin), muscular hypotonia, scoliosis, pectus excavatum, and bone cysts. A higher risk of malignancy for NF1 and non-NF1 tumors is reported: malignant peripheral nerve sheath tumors (lifetime risk of 16-26%), retroperitoneal fibrosarcoma, and medulloblastoma with extensive nodularity
Diagnosis[edit | edit source]
Clinical tests
- Cytogenetics Tests
- Fluorescence in situ hybridization (FISH)
- FISH-metaphase
- Karyotyping
Molecular Genetics Tests
- Targeted variant analysis
- Sequence analysis of the entire coding region
- Deletion/duplication analysis
- Detection of homozygosity
- Uniparental disomy study (UPD)
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Chromosome 17q11.2 deletion syndrome is a rare disease.
| Chromosome 17q11.2 deletion syndrome Resources | |
|---|---|
|
 |
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: Deepika vegiraju
