Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4.

Abstract

The Kabuki (Niikawa-Kuroki) syndrome is a true MCA/MR (multiple congenital anomaly/mental retardation) syndrome characterized by distinct facial changes, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal anomalies. Recently, we examined a 3-year-old girl with the typical clinical signs and symptoms of the Kabuki make-up syndrome. Prometaphase chromosome studies were performed on 62 cells from two different lymphocyte cultures after G-banding. We documented a paracentric inversion in the short arm of chromosome 4 with breakpoints at 4p12 and 4pter: karyotype: 46,XX,inv(4)(p12pter). The present observation of a paracentric inversion of the short arm of chromosome 4 in a child with Kabuki syndrome may therefore be an indication that the Kabuki syndrome is a chromosomal syndrome with partial duplication and/or deficiency within the short arm of chromosome 4. 5 refs., 1 fig.