Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques.
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.
Navon
R
R
Sackler School of Medicine, Tel Aviv University, Sapir Medical Center, Israel.
Timmerman
V
V
Löfgren
A
A
Liang
P
P
Nelis
E
E
Zeitune
M
M
Van Broeckhoven
C
C
D000328:Adult; D001483:Base Sequence; D015139:Blotting, Southern; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D004247:DNA / Q000032:analysis* / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008967:Molecular Biology / Q000379:methods*; D008969:Molecular Sequence Data; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012091:Repetitive Sequences, Nucleic Acid
D004247:DNA