INTERSTITIAL DUP(1P) WITH FINDINGS OF KABUKI-MAKE-UP-SYNDROME

We describe a male patient with interstitial duplication of the short arm of chromosome 1 with breakpoints involving 1p13.1 and 1p22.1. The patient presented with some clinical findings of Kabuki make-up syndro me (KMS), including mental retardation, small head, eversion of the la teral part of lower eyelids, epicanthic folds, lateral flare of the ey ebrows, short columella, and persistent fetal finger pads. This cytoge netic finding may provide clues for gene mapping of the syndrome. (C) 1998 Wiley-Liss, Inc.