Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother.

TitleKabuki syndrome in son and low grade mosaic 45,X/46,XX in mother.
Publication TypeJournal Article
Year of Publication1996
AuthorsVan Hagen JM, Kwee ML, Madan K, Nieuwint AW, Pals G, ten Kate LP
JournalGenetic counseling (Geneva, Switzerland)
Volume7
Issue3
Pagination201-6
Date Published1996
Abstract

We report on a two-year-old boy with Kabuk syndrome and a normal male karyotypei whose mother is a low grade mosaic 45,X/46,XX. We hypothesized that the son's Kabuki syndrome might have been caused by gonosomal uniparental (paternal) disomy DNAi analysis proved this hypothesis to be incorrect. A review of twelve patients with Kabuki syndrome or Kabuki-syndrome-like features and chromosomei abnormalities is presented.

Alternate JournalGenet. Couns.
Citation Key8897041