We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques.
- Authors
Navon, R.; Timmerman, V.; Löfgren, A.; Liang, P.; Nelis, E.; Zeitune, M.; Van Broeckhoven, C.; Löfgren, A
- 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 women 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.
- Publication
Prenatal Diagnosis, 1995, Vol 15, Issue 7, p633
- ISSN
0197-3851
- Publication type
journal article
- DOI
10.1002/pd.1970150708