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 .fwdarw. q32.3::q42.3 .fwdarw. 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 .fwdarw. q42. These results indicate the utility of chromosomal deletions in gene mapping, and the importance of karyotype analysis in newborns with diaphragmatic hernias.