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Title: De Novo duplication in Charcot-Marie-Tooth Type 1A

Abstract

We read with interest the paper on {open_quotes}Prevalence and Origin of De Novo Duplications in Charcot-Marie-Tooth Disease Type 1A: First Report of a De Novo Duplication with a Maternal Origin,{close_quotes}. They reported their experience with 10 sporadic cases of Charcot-Marie-Tooth type 1A (CMT1A) in which it was demonstrated that the disease had arisen as the result of a de novo duplication. They analyzed the de novo-duplication families by using microsatellite markers and identified the parental origin of the duplication in eight cases. In one family the duplication was of maternal origin, whereas in the remaining seven cases it was of paternal origin. The authors concluded that their report was the first evidence of a de novo duplication of maternal origin, suggesting that this is not a phenomenon associated solely with male meiosis. 7 refs.

Authors:
; ;  [1]
  1. and others
Publication Date:
OSTI Identifier:
478522
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 59; Journal Issue: 3; Other Information: PBD: Sep 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; HUMAN CHROMOSOMES; MEIOSIS; ANEUPLOIDY; CHROMOSOMAL ABERRATIONS; GENETICS; SEX DEPENDENCE; BIOLOGICAL MARKERS

Citation Formats

Mandich, P, Bellone, E, and Ajmar, F. De Novo duplication in Charcot-Marie-Tooth Type 1A. United States: N. p., 1996. Web.
Mandich, P, Bellone, E, & Ajmar, F. De Novo duplication in Charcot-Marie-Tooth Type 1A. United States.
Mandich, P, Bellone, E, and Ajmar, F. 1996. "De Novo duplication in Charcot-Marie-Tooth Type 1A". United States.
@article{osti_478522,
title = {De Novo duplication in Charcot-Marie-Tooth Type 1A},
author = {Mandich, P and Bellone, E and Ajmar, F},
abstractNote = {We read with interest the paper on {open_quotes}Prevalence and Origin of De Novo Duplications in Charcot-Marie-Tooth Disease Type 1A: First Report of a De Novo Duplication with a Maternal Origin,{close_quotes}. They reported their experience with 10 sporadic cases of Charcot-Marie-Tooth type 1A (CMT1A) in which it was demonstrated that the disease had arisen as the result of a de novo duplication. They analyzed the de novo-duplication families by using microsatellite markers and identified the parental origin of the duplication in eight cases. In one family the duplication was of maternal origin, whereas in the remaining seven cases it was of paternal origin. The authors concluded that their report was the first evidence of a de novo duplication of maternal origin, suggesting that this is not a phenomenon associated solely with male meiosis. 7 refs.},
doi = {},
url = {https://www.osti.gov/biblio/478522}, journal = {American Journal of Human Genetics},
number = 3,
volume = 59,
place = {United States},
year = {Sun Sep 01 00:00:00 EDT 1996},
month = {Sun Sep 01 00:00:00 EDT 1996}
}