Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield

@article{Alabdullatif2018PostzygoticMA,
  title={Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield},
  author={Z. Alabdullatif and J. Coulombe and J. Steffann and C. Bodemer and S. Hadj-Rabia},
  journal={British Journal of Dermatology},
  year={2018},
  volume={178}
}
  • Z. Alabdullatif, J. Coulombe, +2 authors S. Hadj-Rabia
  • Published 2018
  • Biology, Medicine
  • British Journal of Dermatology
  • Incontinentia pigmenti (IP, MIM 308300) is an X-linked dominant genodermatosis caused by the more frequently occurring (80% of cases) deletion mutation Δ 4-10 on IKBKG gene, located on chromosome Xq28. Incontinentia Pigmenti is generally lethal in male fetuses, while heterozygous females survive owing to functional mosaicism.1 Two potential mechanisms have been proposed to explain the survival of male patients with IP carrying IKBKG mutation: (1) abnormal karyotype, i.e. 47, XXY Klinefelter… CONTINUE READING
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