Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

TitleKabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.
Publication TypeJournal Article
Year of Publication1996
AuthorsLi M, Zackai EH, Niikawa N, Kaplan PB, Driscoll DA
JournalAmerican journal of medical genetics
Volume65
Issue2
Pagination101-3
Date Published1996 Oct 16
Abstract

Kabuki syndrome (KS) or Niikawa-Kuroki syndrome is a sporadic disorder characterized by postnatal growth retardation, developmental delay, mild to moderate retardation, and a characteristic facial appearance. Cardiovascular defects, clefts of the lip, palate, or both, and musculoskeletal abnormalities occur in about 50% of patients with KS. The cause of this multiple congenitali anomalyi syndrome is unknown, and investigators have speculated that KS is a contiguous genei-deletion syndrome. Based on the presence of congenital heart defects in patients with KS, 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 locusi. It is unlikely that KS is caused by a deletion within 22q11.

Alternate JournalAm. J. Med. Genet.
Citation Key8911598