Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers

T. Matilla; J. Corral; M. Miranda; J. Troyano; K. Morrison; V. Volpini; X. Estivill

doi:10.1002/pd.1970140314

Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers

T. Matilla, J. Corral, M. Miranda, J. Troyano, K. Morrison, V. Volpini, X. Estivill

School of Medicine, Dentistry and Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

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.

Original language	English
Pages (from-to)	219-222
Number of pages	4
Journal	Prenatal Diagnosis
Volume	14
Issue number	3
DOIs	https://doi.org/10.1002/pd.1970140314
Publication status	Published - 01 Mar 1994

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title = "Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers",

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.",

author = "T. Matilla and J. Corral and M. Miranda and J. Troyano and K. Morrison and V. Volpini and X. Estivill",

year = "1994",

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doi = "10.1002/pd.1970140314",

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T1 - Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers

AU - Matilla, T.

AU - Corral, J.

AU - Miranda, M.

AU - Troyano, J.

AU - Morrison, K.

AU - Volpini, V.

AU - Estivill, X.

PY - 1994/3/1

Y1 - 1994/3/1

N2 - 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.

AB - 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.

U2 - 10.1002/pd.1970140314

DO - 10.1002/pd.1970140314

M3 - Article

VL - 14

SP - 219

EP - 222

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

IS - 3

ER -

Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers

Abstract

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