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J Pediatr. 1993 Apr;122(4):603-6.

Diaphragmatic hernia in tetrasomy 12p mosaicism.

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1
Department of Human Genetics, Children's Hospital of Philadelphia, PA 19104.

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.

PMID:
8463911
[Indexed for MEDLINE]
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