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

TitlePartial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome.
Publication TypeJournal Article
Year of Publication1993
AuthorsJardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW
JournalClinical dysmorphology
Volume2
Issue3
Pagination269-73
Date Published1993 Jul
Abstract

Kabuki make-up syndrome (KMS) is a mental retardation/congenitali malformation syndrome of unknown aetiology. We report a child with the unbalanced karyotypei 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.

Alternate JournalClin. Dysmorphol.
Citation Key8287190