Interstitial Dup(1p) with findings of Kabuki make-up syndrome.

TitleInterstitial Dup(1p) with findings of Kabuki make-up syndrome.
Publication TypeJournal Article
Year of Publication1998
AuthorsLo IF, Cheung LY, Ng AY, Lam ST
JournalAmerican journal of medical genetics
Date Published1998 Jun 16

We describe a male patient with interstitial duplication of the short arm of chromosomei 1 with breakpoints involving 1p13.1 and 1p22.1. The patient presented with some clinical findings of Kabuki make-up syndrome (KMS), including mental retardation, small head, eversioni of the laterali part of lower eyelids, epicanthic folds, lateral flare of the eyebrows, short columella, and persistent fetal finger pads. This cytogenetic finding may provide clues for gene mapping of the syndrome.

Alternate JournalAm. J. Med. Genet.
Citation Key9637424