Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome

Clin Dysmorphol. 1993 Jul;2(3):269-73.


Kabuki make-up syndrome (KMS) is a mental retardation/congenital malformation syndrome of unknown aetiology. We report a child with the unbalanced karyotype 46,XY,-6,+der(6)t(6;12) (q25.3;q24.31)mat. who has several features of KMS and suggest a possible cause for this condition.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 6*
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Monosomy*
  • Syndrome
  • Trisomy*