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Familial incontinentia pigmenti (IP) is an X-linked dominant disorder with an extremely variable clinical presentation. Ambiguous diagnosis can complicate genetic counselling and attempts to refine the gene location in Xq28. Marked skewing of X-inactivation patterns is a hallmark of IP and provides a means for investigating uncertain cases. We have conducted X-inactivation studies in three families where Xq28 marker studies were at odds with the original clinical assessment. The results indicate that no recombination between the disease locus and Xq28 loci has occurred and suggest that mosaicism is responsible for the discrepancy in one family.

Original publication

DOI

10.1034/j.1399-0004.1999.550110.x

Type

Journal article

Journal

Clin Genet

Publication Date

01/1999

Volume

55

Pages

55 - 60

Keywords

Chromosome Mapping, Dosage Compensation, Genetic, Female, Genetic Counseling, Genetic Markers, Humans, Incontinentia Pigmenti, Male, Pedigree, Recombination, Genetic, X Chromosome