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

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

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  • 1Clinical Genetics Unit, Institute of Child Health, Bristol.

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.

PMID:
8287190
[PubMed - indexed for MEDLINE]
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