Summary
We report two unrelated girls who present some clinical features of severe incontinentia pigmenti (IP), with characteristic skin pigmentation. Both have balanced de novo X/autosome translocations involving band Xp11. The coincidence of the probable de novo expression of an X-linked disorder in these two girls with translocations involving similar breakpoints on the X chromosome suggests that this band may be the site of the IP gene locus.
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Hodgson, S.V., Neville, B., Jones, R.W.A. et al. Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum Genet 71, 231–234 (1985). https://doi.org/10.1007/BF00284581
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DOI: https://doi.org/10.1007/BF00284581