W8MD Diet | COVID-19 portal | Vitamin D | Vaccine | Keto

WikiMD is the world's largest medical encyclopedia with
14,020 pages, 4,158,213 edits & 43,222,920 views.

Free unbiased diet, health and wellness info!

8q12 microduplication syndrome

From WikiMD's free health, diet & wellness encyclopedia
Jump to navigation Jump to search

Alternate names

Dup(8)(q12); Trisomy 8q12; Chromosome 8q12 microduplication syndrome


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.


It has been described in two patients.


  • 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

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

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

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)


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:


NIH genetic and rare disease info

8q12 microduplication syndrome is a rare disease.

External links

Medicine icon
Medicine icon

This WikiMD article 8q12 microduplication syndrome is a stub. If you are familiar with the topic 8q12 microduplication syndrome, you can help us. Paid editors welcome!


8q12 microduplication syndrome is part of WikiMD's free ^articles!

^8q12 microduplication syndrome (article) is provided for informational purposes only. No expressed or implied warranties as to the validity of content.
WikiMD is not a substitute for professional advice. By accessing and using WikiMD you agree to the terms of use.
Templates etc. when imported from Wikipedia, are licensed under CC BY-SA 3.0. See full disclaimers.
W8MD weight loss logo

Ad. Tired of being overweight?. W8MD's physician weight loss program can HELP. Tele medicine available