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  • Title: Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome.
    Author: Jardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW.
    Journal: Clin Dysmorphol; 1993 Jul; 2(3):269-73. PubMed ID: 8287190.
    Abstract:
    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.
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