Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect.
case_report · Level V
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- Record sourced from PubMed, PMID 9511201.
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Abstract
A case of prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect is described. This type of chromosomal aberration has been shown to be present in up to 30% of isolated conotruncal anomalies and in most cases of DiGeorge and velocardiofacial syndromes. The implications of such a diagnosis on prenatal counselling are discussed.
Medical subject headings
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Heart Defects, Congenital
- Pulmonary Atresia