8q12 microduplication syndrome
Alternate names[edit | edit source]
Dup(8)(q12); Trisomy 8q12; Chromosome 8q12 microduplication syndrome
Definition[edit | edit source]
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.
Epidemiology[edit | edit source]
It has been described in two patients.
Cause[edit | edit source]
- This microduplication was identified by microarray-based comparative genomic hybridization (aCGH).
- The lack of recurrent breakpoints in these two cases and the absence of any low-copy repeats (LCR) pairs that flank these de novo events do not support non-allelic homologous recombination as the mutation mechanism.
- The 8q12 region includes CHD7 and it is proposed that this gene, associated with CHARGE syndrome by haploinsufficiency, causes a different phenotype by gain-of-dosage.
Signs and symptoms[edit | edit source]
The mild facial dysmorphism is characterized by high, arched eyebrows and unilateral narrowing of the palpebral fissure and retraction of the globe caused by Duane anomaly (Duane anomaly is a form of complex strabismus characterized by limited ocular abduction and variably limited adduction accompanied by retraction of the globe, which narrows the palpebral fissure).
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Duane anomaly
- Global developmental delay
- Long palpebral fissure(Broad opening between the eyelids)
- Muscular hypotonia(Low or weak muscle tone)
- Sensorineural hearing impairment
- Ventricular septal defect(Hole in heart wall separating two lower heart chambers)
30%-79% of people have these symptoms
- Abnormal cranial nerve morphology
- Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
- Attention deficit hyperactivity disorder(Attention deficit)
- Brachycephaly(Short and broad skull)
- Epicanthus(Eye folds)
- Everted lower lip vermilion(Drooping lower lip)
- Gastroesophageal reflux(Acid reflux)
- Highly arched eyebrow(Arched eyebrows)
- Long philtrum
- Narrow mouth(Small mouth)
- Short foot(Short feet)
- Telecanthus(Corners of eye widely separated)
- Vesicoureteral reflux
- Wide nasal bridge(Broad nasal bridge)
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]
NIH genetic and rare disease info[edit source]
8q12 microduplication syndrome is a rare disease.
- Need help finding a doctor or specialist anywhere in the world? WikiMD's DocFinder can help with millions of doctors!
This article is a stub. Help WikiMD grow by registering to expand it. |
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