Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
University of Washington · University of Geneva · +32 more institutions
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Abstract
Background
Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients.
Methods
We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients with unexplained mental retardation, autism, or congenital anomalies and in unaffected persons.
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810
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Authors
84Topics & keywords
Topics
Keywords
- Microcephaly
- Gene duplication
- Autism
- Genetics
- Disease
- Speech delay
- Cataracts
- Context (archaeology)
UN Sustainable Development Goals
- Good health and well-being
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