Prenatal diagnosis of charcot‐marie‐tooth disease type 1a (CMT1A) using molecular genetic techniques

R. Navon, V. Timmerman, A. Löfgren, P. Liang, E. Nelis, M. Zeitune, C. Van Broeckhoven

Research output: Contribution to journalArticlepeer-review

Abstract

Charcot‐Marie‐Tooth disease type 1A (CMT1A) is a frequent hereditary motor and sensory neuropathy of the peripheral nerves. In most cases, the disease is associated with a 1.5 Mb tandem duplication at 17p11.2. A 42‐year‐old pregnant woman requested prenatal diagnosis because of her age and since both her husband and two children were severely affected with CMT1. The CMT1A duplication was demonstrated in the father's, the two children's, and the fetus's DNA using different molecular genetic methods. Although cytogenetical analysis showed a normal female karyotype in the fetus, the parents decided to terminate the pregnancy because of the genetic risk associated with the CMT1A duplication.

Original languageEnglish
Pages (from-to)633-640
Number of pages8
JournalPrenatal Diagnosis
Volume15
Issue number7
DOIs
StatePublished - Jul 1995

Keywords

  • CMT1A
  • Charcot‐Marie‐Tooth disease
  • duplication 17p11.2
  • motor and sensory neuropathy
  • type 1A

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