Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence
N Engl J Med
.
1991 Dec 12;325(24):1720-2.
doi: 10.1056/NEJM199112123252407.
Authors
G R Sutherland
1
,
A Gedeon
,
L Kornman
,
A Donnelly
,
R W Byard
,
J C Mulley
,
E Kremer
,
M Lynch
,
M Pritchard
,
S Yu
, et al.
Affiliation
1
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia.
PMID:
1944473
DOI:
10.1056/NEJM199112123252407
No abstract available
MeSH terms
Base Sequence
Blotting, Southern
Chorionic Villi Sampling*
DNA / metabolism
Female
Fetal Diseases / diagnosis*
Fragile X Syndrome / diagnosis*
Genotype
Humans
Methylation
Polymerase Chain Reaction
Pregnancy
Substances
DNA