Literature DB >> 16781308

Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization.

Luis M Franco1, Jennifer Goldstein, Neil S Prose, M Angélica Selim, Carlos A Tirado, Melissa M Coale, Marie T McDonald.   

Abstract

We report the case of a male infant with incontinentia pigmenti (MIM 308310) and low-grade XXY mosaicism. Fluorescence in situ hybridization may reveal the underlying genetic alteration in male patients with incontinentia pigmenti and a normal karyotype.

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Year:  2006        PMID： 16781308     DOI： 10.1016/j.jaad.2005.11.1068

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


  3 in total

1.  Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study.

Authors:  Morten Frost; Michaela Tencerova; Christina M Andreasen; Thomas L Andersen; Charlotte Ejersted; Dea Svaneby; Weimin Qui; Moustapha Kassem; Allahdad Zarei; William H McAlister; Deborah J Veis; Michael P Whyte; Anja L Frederiksen
Journal:  Bone       Date:  2019-01-16       Impact factor: 4.398

2.  Cephalometric skeletal evaluation of patients with Incontinentia Pigmenti.

Authors:  Marcia Angelica Peter Maahs; Ana Elisa Kiszewski; Rafael Fabiano Machado Rosa; Fernanda Diffini Santa Maria; Frederico Ballvé Prates; Paulo Ricardo Gazzola Zen
Journal:  J Oral Biol Craniofac Res       Date:  2014-08-22

3.  Incontinentia pigmenti in a newborn with NEMO mutation.

Authors:  Young Lee; Sooyeon Kim; Kyunghee Kim; Meayoung Chang
Journal:  J Korean Med Sci       Date:  2011-01-24       Impact factor: 2.153
  3 in total

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