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X‐inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation
Author(s) -
Woffendin Hayley,
Jakins Tracy,
Jouet Monique,
Stewart Helen,
Landy Sarah,
Haan Eric,
Harris Ann,
Donnai Dian,
Read Andrew,
Kenwrick Sue
Publication year - 1999
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1999.550110.x
Subject(s) - xq28 , incontinentia pigmenti , genetics , x chromosome , locus (genetics) , x inactivation , genetic counseling , gene , biology
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.