A family in which the mother and 2 of her daughters were affected with incontinentia pigmenti is reported. To prove the genetic transmission of the disease on the basis that it is due to a single dominant gene on the X-chromosome with lethal effect in the hemizygous male, the authors studied 3 X-linked genetic markers (Xg blood group, glucose-6-phosphate dehydrogenase [G-6-PD] variants and colour blindness). Although the results were not informative in the present case, the procedure is recommended when studying other families with incontinentia pigmenti.
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Cantú-Garza et al. (2009) studied this question.
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