Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother.
We report on a two-year-old boy with Kabuk syndrome and a normal male karyotype 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 DNA analysis proved this hypothesis to be incorrect. A review of twelve patients with Kabuki syndrome or Kabuki-syndrome-like features and chromosome abnormalities is presented.
Van Hagen
J M
JM
Department of Clinical Genetics, Academic Hospital, Amsterdam, The Netherlands.
Kwee
M L
ML
Madan
K
K
Nieuwint
A W
AW
Pals
G
G
ten Kate
L P
LP
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome