Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome.
作者信息
Jardine P E, Burvill-Holmes L C, Schutt W H, Lunt P W
机构信息
Clinical Genetics Unit, Institute of Child Health, Bristol.
出版信息
Clin Dysmorphol. 1993 Jul;2(3):269-73.
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.
摘要
Zotero 插件