Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

✍ Scribed by Hagop Youssoufian; Philip Chance; Cathy M. Tuck-Muller; Ethylin Wang Jabs

• Book ID: 104707557
• Publisher: Springer
• Year: 1988
• Tongue: English
• Weight: 464 KB
• Volume: 78
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00291674

✦ Synopsis

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.