Diaphragmatic hernia in tetrasomy 12p mosaicism.
case_report · Level V
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- Record sourced from PubMed, PMID 8463911.
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Abstract
Twelve infants with diaphragmatic hernias plus other anomalies who had mosaicism for tetrasomy isochromosome 12p (Pallister-Killian syndrome) are reviewed. A newborn infant with a diaphragmatic hernia plus dysmorphic features and a normal peripheral blood karyotype should have chromosome analysis performed on fibroblasts or bone marrow.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosomes, Human, Pair 12
- Hernias, Diaphragmatic, Congenital
- Mosaicism