Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases.

Abstract excerpt

Prenatal prediction in families at risk for autosomal recessive proximal spinal muscular atrophy (SMA) mainly of type I is often requested due to the high incidence and the fetal outcome of the disease. So far, only indirect genotype analysis can be performed in SMA families, since the gene has not yet been identified. We present our experience of 109 prenatal diagnoses obtained in 91 families by use of single-...

Topics

• Alleles
• Base Sequence
• Chromosomes, Human, Pair 5
• Diagnostic Errors
• Female
• Genetic Linkage
• Genetic Markers
• Genotype
• Humans
• Molecular Sequence Data
• Muscular Atrophy, Spinal