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

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

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

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

Authors

P E Jardine¹, L C Burvill-Holmes, W H Schutt, P W Lunt

Affiliation

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

PMID: 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.

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*