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Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual
Tatjana Damnjanovic1, Goran Cuturilo, Nela Maksimovic
1Institutes of Human Genetics, University of Belgrade Faculty of Medicine, Belgrade, Serbia. tatjanadamnjanovic@yahoo.com.
The Turkish Journal of Pediatrics
|December 23, 2015
Summary
Submicroscopic chromosomal rearrangements cause developmental delay and intellectual disabilities (DD/ID). Routine subtelomeric screening detects these aberrations, aiding diagnosis and genetic counseling for affected individuals.
Area of Science:
- Genetics
- Developmental Biology
- Medical Diagnostics
Background:
- Developmental delay and intellectual disabilities (DD/ID) affect 3% of the population.
- Submicroscopic subtelomeric chromosomal rearrangements are a known cause of unexplained DD/ID.
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