Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers
Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers
We present a case of prenatal diagnosis of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy (SMA). DNA obtained from a mummified umbilical cord of a decreased affected brother of the index case was analysed with four closely linked microsatellite markers [EF1/2a and EF13/14 (D5S125), MAP1B, and JK53CA (D5S112)], flanking the SMA gene, on chromosome 5q11.2-13.3. The fetus was diagnosed as homozygous for the deleterious SMA gene.
219-222
Matilla, T.
ae9c286c-dfc4-4683-8f41-eed894aa7146
Corral, J.
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Miranda, M.
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Troyano, J.
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Morrison, K.
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Volpini, V.
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Estivill, X.
635bf6f8-b710-45bd-a531-9033b8b15b50
March 1994
Matilla, T.
ae9c286c-dfc4-4683-8f41-eed894aa7146
Corral, J.
fb396505-b29e-4735-abcb-bf7d1e89842b
Miranda, M.
8c486793-e0a6-4725-aa04-e316ea705ee1
Troyano, J.
3cf6accd-9e1f-4c56-bd8c-060bbb517add
Morrison, K.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Volpini, V.
6bcec9a7-9ba0-49ac-b288-d13d0d63a6e7
Estivill, X.
635bf6f8-b710-45bd-a531-9033b8b15b50
Matilla, T., Corral, J., Miranda, M., Troyano, J., Morrison, K., Volpini, V. and Estivill, X.
(1994)
Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers.
Prenatal Diagnosis, 14 (3), .
(doi:10.1002/pd.1970140314).
(PMID:8052572)
Abstract
We present a case of prenatal diagnosis of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy (SMA). DNA obtained from a mummified umbilical cord of a decreased affected brother of the index case was analysed with four closely linked microsatellite markers [EF1/2a and EF13/14 (D5S125), MAP1B, and JK53CA (D5S112)], flanking the SMA gene, on chromosome 5q11.2-13.3. The fetus was diagnosed as homozygous for the deleterious SMA gene.
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Accepted/In Press date: 19 June 1993
Published date: March 1994
Organisations:
Medical Education
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Local EPrints ID: 399560
URI: http://eprints.soton.ac.uk/id/eprint/399560
PURE UUID: 12352f33-c9ee-45cb-aa6d-3ae351fe7fa8
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Date deposited: 18 Aug 2016 13:12
Last modified: 15 Mar 2024 01:55
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Author:
T. Matilla
Author:
J. Corral
Author:
M. Miranda
Author:
J. Troyano
Author:
K. Morrison
Author:
V. Volpini
Author:
X. Estivill
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