PMID- 7630211
OWN - NLM
STAT- MEDLINE
DCOM- 19950906
LR  - 20190516
IS  - 0025-6196 (Print)
IS  - 0025-6196 (Linking)
VI  - 70
IP  - 8
DP  - 1995 Aug
TI  - Hereditary neuropathy with liability to pressure palsies and inherited brachial 
      plexus neuropathy--two genetically distinct disorders.
PG  - 743-6
AB  - 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.
FAU - Windebank, A J
AU  - Windebank AJ
AD  - Department of Neurology, Mayo Clinic Rochester, Minnesota 55905, USA.
FAU - Schenone, A
AU  - Schenone A
FAU - Dewald, G W
AU  - Dewald GW
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Mayo Clin Proc
JT  - Mayo Clinic proceedings
JID - 0405543
RN  - 0 (DNA Probes)
SB  - IM
GS  - HER-2/neu
MH  - Brachial Plexus Neuritis/*genetics
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - DNA Probes
MH  - Female
MH  - Genes, erbB-2/genetics
MH  - Hereditary Sensory and Motor Neuropathy/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Metaphase
MH  - Paralysis/genetics
EDAT- 1995/08/01 00:00
MHDA- 1995/08/01 00:01
CRDT- 1995/08/01 00:00
PHST- 1995/08/01 00:00 [pubmed]
PHST- 1995/08/01 00:01 [medline]
PHST- 1995/08/01 00:00 [entrez]
AID - S0025-6196(11)64345-0 [pii]
AID - 10.4065/70.8.743 [doi]
PST - ppublish
SO  - Mayo Clin Proc. 1995 Aug;70(8):743-6. doi: 10.4065/70.8.743.