11 top medical experts on Chromosome 1q21.1 Duplication Syndrome across 0 countries. This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Chromosome 1q21.1 Duplication Syndrome: 1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Support Organizations
- Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/
- Simons Searchlight
Toll-free: +1-855-329-5638
Fax: +1-570-214-7327
E-mail: coordinator@simonssearchlight.org
Website: https://www.simonssearchlight.org/
- Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/
-
Computing Expert Listing ...
Find Expert Doctors on Chromosome 1q21.1 Duplication Syndrome