Monosomy 8p: an easily overlooked syndrome
- PMID: 3712390
- PMCID: PMC1049570
- DOI: 10.1136/jmg.23.2.153
Monosomy 8p: an easily overlooked syndrome
Abstract
Two patients with partial monosomy of the short arm of chromosome 8 are described. Their clinical features were very similar. Comparison with previously reported patients confirms the existence of an 8p- syndrome. The importance of cytogenetic investigations in all infants with major congenital heart defect and facial dysmorphism or microcephaly or both is stressed.
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