Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4
- Univ. of Leuven (Belgium)
- Univ. Hospital Maastricht (Netherlands)
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.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 61989
- Journal Information:
- American Journal of Medical Genetics, Vol. 53, Issue 2; Other Information: PBD: 1 Nov 1994
- Country of Publication:
- United States
- Language:
- English
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