Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome.
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.
Jardine
P E
PE
Clinical Genetics Unit, Institute of Child Health, Bristol.
Burvill-Holmes
L C
LC
Schutt
W H
WH
Lunt
P W
PW
D000015:Abnormalities, Multiple / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12; D002896:Chromosomes, Human, Pair 6; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D013577:Syndrome; D014314:Trisomy