Cytology and Genetics ,
vol. ,
no. , ,
doi: https://www.doi.org/
A computer analysis was used to study heterogeneity of the Smith-Lemli-Opitz syndrome (SLOS) with or without certain anomalies and to determine intrafamilial phenotypical variability. The analysis of 83 SLOS cases showed significant differences in average values of intragroup similarity, estimated for the cases with cleft palate and without it and those with or without polydactyly. The degree of intragroup similarity in familial cases appeared to be twice as high as in sporadic ones. These data confirm the hypothesis on genetic heterogeneity of SLOS with some allelic forms.
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