Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy - Two genetically distinct disorders

Anthony John Windebank, A. Schenone, G. W. Dewald

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Objective: To determine whether hereditary neuropathy with liability to pressure palsies (HNPP) and inherited brachial plexus neuropathy (IBPN) are genetically distinct disorders and to evaluate the usefulness of fluorescence in situ hybridization (FISH) for diagnosing HNPP in individual patients. Design: We studied representative metaphases from patients with HNPP and IBPN with use of FISH and a DNA probe. Material and Methods: With use of FISH, 14 persons from 4 unrelated families with HNPP and 7 members from 3 unrelated families with IBPN were studied. We used a DNA probe that hybridizes to chromosome 17p11.2 in an area thought to be deleted in HNPP. Results: Each participant in this study who had HNPP showed deletion of this chromosome site. Each of the 10 control subjects and 7 patients with IBPN showed normal fluorescent signals on both number 17 chromosomes. Conclusion: These results demonstrate that HNPP and IBPN are genetically different. FISH with this probe is a sensitive and specific method for detecting the chromosomal deletion in individual patients without the use of family studies or linkage analysis.

Original languageEnglish (US)
Pages (from-to)743-746
Number of pages4
JournalMayo Clinic Proceedings
Volume70
Issue number8
StatePublished - 1995

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Brachial Plexus Neuropathies
Fluorescence In Situ Hybridization
DNA Probes
Patient Advocacy
Chromosome Deletion
Chromosomes, Human, Pair 17
Metaphase
Chromosomes
Tomaculous neuropathy

ASJC Scopus subject areas

  • Medicine(all)

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Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy - Two genetically distinct disorders. / Windebank, Anthony John; Schenone, A.; Dewald, G. W.

In: Mayo Clinic Proceedings, Vol. 70, No. 8, 1995, p. 743-746.

Research output: Contribution to journalArticle

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