A 23‐nucleotide tandem duplication (GGACCTTGAAAGTACTC‐GGGACC) was found within exon 3 of the β‐galactosidase gene in a patient with infantile‐form GMl‐gangliosidosis, which generated a premature stop codon after translation of 36 amino acids. Homologous sequences at the area of duplication suggested that the mutation resulted from an unequal crossover. A single base substitution 316Trp→Cys was found in the other allele. Family study showed that the duplication was transmitted from his father and the base substitution from his mother.
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