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

Jardine, P E; Burvill-Holmes, L C; Schutt, W H; Lunt, P W.

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

Article in English | MEDLINE | ID: mdl-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.

Subject(s)

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

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