Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.
A newborn male with a large diaphragmatic hernia presented in severe respiratory distress. Additional features included a paucity of subcutaneous tissue, mild facial dysmorphism, webbing of the neck, genital hypoplasia, and flexion contractures of the fingers. His karyotype showed a previously unreported de novo interstitial deletion of the long arm of chromosome 1 [46,XY,del(1)(pter----q32.3::q42.3----qter)]. Regional mapping of five human genes that have been provisionally assigned to chromosome 1 was performed by restriction analysis of genomic DNA from this patient. Glucocerebrosidase, H4 histone, renin, and alpha-spectrin genes mapped outside the deleted region, whereas an H subunit of the ferritin gene mapped to 1q32----q42. These results indicate the utility of chromosomal deletions in gene mapping, and the importance of karyotype analysis in newborns with diaphragmatic hernias.
Youssoufian
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Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
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Tuck-Muller
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D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005293:Ferritins / Q000235:genetics*; D005819:Genetic Markers; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male
D005819:Genetic Markers; D005293:Ferritins