Summary
Two cases of interstitial deletion of chromosome 15 with similar clinical features are presented. In one case, assay of hexosaminidase A enabled us to confirm that the structural gene is located between 15q22 and 15q25 and that it is included in the deletion.
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References
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Formiga, L.d.F., Poenaru, L., Couronne, F. et al. Interstitial deletion of chromosome 15: two cases. Hum Genet 80, 401–404 (1988). https://doi.org/10.1007/BF00273663
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DOI: https://doi.org/10.1007/BF00273663