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Chromosome "1q21.1" deletion syndrome
- ... 1q21.1 contiguous gene deletion 1q21.1 deletion Chromosome 1q21.1 deletion syndrome Chromosome 1q21.1 deletion syndrome, 1.35-Mb Genetic Testing Registry: Chromosome 1q21. ...
- ... not show signs and symptoms of the condition. Chromosome 1q21.1 deletion syndrome, 200-KB Radial aplasia-amegakaryocytic thrombocytopenia Radial aplasia- ...
- ... can occur. More About This Health Condition A deletion in the 1q21.1 region of chromosome 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. TAR syndrome is characterized by the absence of ...
- ... 8A in cells. The deletions involved in TAR syndrome eliminate at least 200,000 DNA building blocks (200 kilobases, or 200 kb) from the long (q) arm of chromosome 1 in a region called 1q21.1. The deletion eliminates one copy of the RBM8A gene in ...
- ... duplication 1q21.1 duplication syndrome Genetic Testing Registry: Chromosome 1q21.1 duplication syndrome 1q21.1 microduplication syndrome National Organization for Rare ...
- Developmental Disabilities (National Library of Medicine)What are developmental disabilities? Developmental disabilities are conditions that are usually present at birth. They can affect a child's growth and ...