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Croat Med J. 1999 Sep;40(3):433-7.

Prenatal diagnosis of spinal muscular atrophy type I (Werdnig- hoffmann) by DNA deletion analysis of cultivated amniocytes.

Author information

1
Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Sveti Duh Hospital,Sveti Duh 64, 10000 Zagreb; Croatia.

Abstract

AIM:

Presentation of a prenatally diagnosed case of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy.

METHODS:

DNA obtained from cultivated amniocytes was analyzed for deletions in the survival motor neuron gene and neuronal apoptosis inhibitory protein gene.

RESULTS:

The fetus was diagnosed as an affected homozygote for deletions in exon 7 and exon 8 of the survival motor neuron gene. No deletions of exon 5 in the neuronal apoptosis inhibitory protein gene were found.

CONCLUSION:

Direct DNA deletion analysis of the survival motor neuron gene and neuronal apoptosis inhibitory protein gene in affected families represents a highly reliable and fast method for prenatal diagnosis of Werdnig-Hoffmann disease.

PMID:
10411975
[Indexed for MEDLINE]
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