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Chromosome 4q- Syndrome

A chromosomal abnormality characterized by loss of a portion of the long (Q) arm of chromosome 4. Severity of the syndrome depends on the size and location of the deletion and the genes that are lost. Affected individuals generally have distinct craniofacial features (FACIES), skeletal abnormalities, heart defects, intellectual disability, and short stature.
Also Known As:
Chromosome 4 Long Arm Deletion; Chromosome 4, monosomy 4q; Deletion 4q; Monosomy 4q
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Disease Context: Research Results