7q11.23 duplication syndrome


7q11.23 duplication syndrome is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7.
This syndrome is characterized by a wide spectrum of neurological, behavior and other medical problems which may appear in different levels of severity. Common characteristics are speech sound disorder, delayed development, delayed motor development and clumsiness, anxiety, selective mutism, ADHD, oppositional disorder, ASD, intellectual disability in 18%, cardio-vascular disease, seizures in 19%, neurological abnormalities. hydrocephalus in 5.6%, chronic constipation. The syndrome was first reported in 2005

Symptoms and signs

  1. Eyes issues - high strength glasses, strabismus
  2. Hypospadias
  3. Hypermobility
  4. Hypotonia
  5. Hearing loss

Diagnosis

A medical examination is recommended for newly diagnosed including echocardiogram for detection of heart defects, kidneys ultrasound, consider brain MRI.

Treatment

Intensive speech/language therapy was found to be important for maximizing long-term outcomes.

Society and culture

Simon Searchlight is an international patient registry for dup7 patients to help speed up research into neurodevelopmental disorders. By collecting detailed participant information and blood samples, Simons Searchlight takes a deep dive into rare genetic conditions, sharing the data and samples for free with researchers. Participation is open to individuals all over the world who speak English and Spanish. In the future, it might also contain iPSC which will be generated from these blood samples. Anyone who carries a 7q11.23 duplication can join this registry.