PMID- 10586272
OWN - NLM
STAT- MEDLINE
DCOM- 19991221
LR  - 20041117
IS  - 0077-8923 (Print)
IS  - 0077-8923 (Linking)
VI  - 883
DP  - 1999 Sep 14
TI  - Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.
PG  - 457-9
AB  - Charcot-Marie-Tooth disease (CMT) is the most common cause of peripheral 
      neuropathy, with an incidence of 1: 2500 persons affected. CMT1A is caused by a 
      submicroscopic duplication in 17p12. Several methods exist for determining a 
      diagnosis in an individual. Many of these methods are not suitable for prenatal 
      diagnosis. Previously, we reported the use of fluorescence in situ hybridization 
      (FISH) to detect the common duplication found in more than 98% of individuals 
      with CMT1A. We also have reported the validation of the FISH assay for amniotic 
      fluid specimens and chorionic villus samples. Herein, we report our experience 
      with testing for CMT1A in prenatal specimens.
FAU - Kashork, C D
AU  - Kashork CD
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      Texas 77030, USA.
FAU - Chen, K S
AU  - Chen KS
FAU - Lupski, J R
AU  - Lupski JR
FAU - Shaffer, L G
AU  - Shaffer LG
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Ann N Y Acad Sci
JT  - Annals of the New York Academy of Sciences
JID - 7506858
SB  - IM
MH  - Amniocentesis
MH  - Charcot-Marie-Tooth Disease/*diagnosis/*embryology/genetics
MH  - Chromosomes, Human, Pair 17
MH  - Female
MH  - Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
EDAT- 1999/12/10 00:00
MHDA- 1999/12/10 00:01
CRDT- 1999/12/10 00:00
PHST- 1999/12/10 00:00 [pubmed]
PHST- 1999/12/10 00:01 [medline]
PHST- 1999/12/10 00:00 [entrez]
PST - ppublish
SO  - Ann N Y Acad Sci. 1999 Sep 14;883:457-9.