46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis

Charles P. Venditti, Nicole K. Seese, Glenn S. Gerhard, Amy E. Ten Eishof, Karen A. Chorney, Philip N. Mowrey, Paul G. Lacey, Joan H.M. Knoll, Michael J. Chorney

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Hereditary haemochromatosis (HFE) is a recessive genetic disease of iron overload which has been shown by linkage analysis to reside on the short arm of chromosome 6, close to the major histocompatibility complex (MHC). Positional cloning of the putative HFE locus has been hampered, in part, by the lack of a structural alteration on 6p. In this report, we describe a pedigree with HFE which carries a balanced paracentric inversion of chromosome 6, inv(6)(p21.1p23), a rarely reported chromosomal rearrangement in this region. We have determined the inheritance of the chromosome harbouring the inversion, which segregates as an HFE chromosome. Because the HFE locus has been mapped distal to the HLA-F class I locus at 6p21.3, the breakpoints associated with this chromosomal rearrangement may provide a significant genomic landmark for positional cloning of the HFE gene.

Original languageEnglish (US)
Pages (from-to)24-27
Number of pages4
JournalJournal of medical genetics
Volume34
Issue number1
StatePublished - Feb 12 1997

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Chromosomes, Human, Pair 6
Hemochromatosis
Pedigree
Organism Cloning
Inborn Genetic Diseases
Iron Overload
Major Histocompatibility Complex
Chromosomes
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Venditti, C. P., Seese, N. K., Gerhard, G. S., Ten Eishof, A. E., Chorney, K. A., Mowrey, P. N., ... Chorney, M. J. (1997). 46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis. Journal of medical genetics, 34(1), 24-27.
Venditti, Charles P. ; Seese, Nicole K. ; Gerhard, Glenn S. ; Ten Eishof, Amy E. ; Chorney, Karen A. ; Mowrey, Philip N. ; Lacey, Paul G. ; Knoll, Joan H.M. ; Chorney, Michael J. / 46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis. In: Journal of medical genetics. 1997 ; Vol. 34, No. 1. pp. 24-27.
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Venditti, CP, Seese, NK, Gerhard, GS, Ten Eishof, AE, Chorney, KA, Mowrey, PN, Lacey, PG, Knoll, JHM & Chorney, MJ 1997, '46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis', Journal of medical genetics, vol. 34, no. 1, pp. 24-27.

46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis. / Venditti, Charles P.; Seese, Nicole K.; Gerhard, Glenn S.; Ten Eishof, Amy E.; Chorney, Karen A.; Mowrey, Philip N.; Lacey, Paul G.; Knoll, Joan H.M.; Chorney, Michael J.

In: Journal of medical genetics, Vol. 34, No. 1, 12.02.1997, p. 24-27.

Research output: Contribution to journalArticle

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AU - Seese, Nicole K.

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AU - Ten Eishof, Amy E.

AU - Chorney, Karen A.

AU - Mowrey, Philip N.

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AU - Knoll, Joan H.M.

AU - Chorney, Michael J.

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Venditti CP, Seese NK, Gerhard GS, Ten Eishof AE, Chorney KA, Mowrey PN et al. 46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis. Journal of medical genetics. 1997 Feb 12;34(1):24-27.