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

Hagop Youssoufian, Philip Chance, Cathy M. Tuck-Muller, Ethylin Wang Jabs

Research output: Contribution to journalArticlepeer-review

Abstract

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,de(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 delected 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.

Original languageEnglish (US)
Pages (from-to)267-270
Number of pages4
JournalHuman Genetics
Volume78
Issue number3
DOIs
StatePublished - Mar 1988

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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