Charcot-Marie-Tooth disease type 1A

the parental origin of a de novo 17p11.2-p12 duplication

Jens Michael Hertz, A D Børglum, C A Brandt, T Flint, C Bisgaard

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a DNA duplication on chromosome 17p11.2-p12 in the majority of cases. Most of the sporadic cases are due to a de novo duplication. We have screened for this duplication in 11 Danish patients with CMT type 1, using four different techniques, and identified a de novo duplication in a sporadic case. Analysis of the fully informative pVAW409R3a alleles in this family showed the duplication to be of paternal origin.
OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind46
Udgave nummer4
Sider (fra-til)291-4
Antal sider4
ISSN0009-9163
StatusUdgivet - 1994

Fingeraftryk

Charcot-Marie-Tooth Disease
Peripheral Nervous System Diseases
Alleles
DNA

Citer dette

Hertz, J. M., Børglum, A. D., Brandt, C. A., Flint, T., & Bisgaard, C. (1994). Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication. Clinical Genetics, 46(4), 291-4.
Hertz, Jens Michael ; Børglum, A D ; Brandt, C A ; Flint, T ; Bisgaard, C. / Charcot-Marie-Tooth disease type 1A : the parental origin of a de novo 17p11.2-p12 duplication. I: Clinical Genetics. 1994 ; Bind 46, Nr. 4. s. 291-4.
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abstract = "Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a DNA duplication on chromosome 17p11.2-p12 in the majority of cases. Most of the sporadic cases are due to a de novo duplication. We have screened for this duplication in 11 Danish patients with CMT type 1, using four different techniques, and identified a de novo duplication in a sporadic case. Analysis of the fully informative pVAW409R3a alleles in this family showed the duplication to be of paternal origin.",
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Hertz, JM, Børglum, AD, Brandt, CA, Flint, T & Bisgaard, C 1994, 'Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication', Clinical Genetics, bind 46, nr. 4, s. 291-4.

Charcot-Marie-Tooth disease type 1A : the parental origin of a de novo 17p11.2-p12 duplication. / Hertz, Jens Michael; Børglum, A D; Brandt, C A; Flint, T; Bisgaard, C.

I: Clinical Genetics, Bind 46, Nr. 4, 1994, s. 291-4.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Charcot-Marie-Tooth disease type 1A

T2 - the parental origin of a de novo 17p11.2-p12 duplication

AU - Hertz, Jens Michael

AU - Børglum, A D

AU - Brandt, C A

AU - Flint, T

AU - Bisgaard, C

PY - 1994

Y1 - 1994

N2 - Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a DNA duplication on chromosome 17p11.2-p12 in the majority of cases. Most of the sporadic cases are due to a de novo duplication. We have screened for this duplication in 11 Danish patients with CMT type 1, using four different techniques, and identified a de novo duplication in a sporadic case. Analysis of the fully informative pVAW409R3a alleles in this family showed the duplication to be of paternal origin.

AB - Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a DNA duplication on chromosome 17p11.2-p12 in the majority of cases. Most of the sporadic cases are due to a de novo duplication. We have screened for this duplication in 11 Danish patients with CMT type 1, using four different techniques, and identified a de novo duplication in a sporadic case. Analysis of the fully informative pVAW409R3a alleles in this family showed the duplication to be of paternal origin.

KW - Adult

KW - Charcot-Marie-Tooth Disease

KW - Chromosome Aberrations

KW - Chromosomes, Human, Pair 17

KW - DNA Mutational Analysis

KW - Fathers

KW - Genomic Imprinting

KW - Humans

KW - Male

KW - Pedigree

KW - Repetitive Sequences, Nucleic Acid

M3 - Journal article

VL - 46

SP - 291

EP - 294

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 4

ER -