KABUKI SYNDROME IS NOT CAUSED BY A MICRO DELETION IN THE DIGEORGE VELOCARDIOFACIAL CHROMOSOMAL REGION WITHIN 22Q11.2/

Kabuki syndrome (KS) or Niikawa-Kuroki syndrome is a sporadic disorder characterized by postnatal growth retardation, developmental delay, m ild to moderate retardation, and a characteristic facial appearance. C ardiovascular defects, clefts of the lip, palate, or both, and musculo skeletal abnormalities occur in about 50% of patients with KS. The cau se of this multiple congenital anomaly syndrome is unknown, and invest igators have speculated that KS is a contiguous gene-deletion syndrome . Based on the presence of congenital heart defects in patients with K S, it was suggested that this disorder might share a common cause with the 22q11 deletion syndromes. A preliminary study of 2 patients with KS failed to detect a deletion within 22q11. We report the results of fluorescence in situ hybridization with cosmid probes for loci D22S75 (N25) and D22S259 (R32) within the DiGeorge chromosomal region (DGCR) on metaphase spreads from an additional 5 patients, 2 non-Japanese and 3 Japanese, with KS. None of the 5 had deletions at either locus. It is unlikely that KS is caused by a deletion within 22q11. (C) 1996 Wil ey-Liss, Inc.