Kabuki syndrome and trisomy 10p.

TitleKabuki syndrome and trisomy 10p.
Publication TypeJournal Article
Year of Publication2008
AuthorsUtine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E
JournalGenetic counseling (Geneva, Switzerland)
Volume19
Issue3
Pagination291-300
Date Published2008
Abstract

Kabuki syndrome (KS) (MIM 147920) is a multiple congenitali anomalies/mental retardation syndrome of unknown cause. There is multisystem involvement of anomalies, including 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderate mental retardation, 4) skeletal anomalies and 5) dermatoglyphic abnormalities. Kabuki syndrome remains a clinical diagnosis despite significant research on detection of the genetic cause. We present 10 patients with Kabuki syndrome with a brief overview of the syndrome. An additional male patient and his affected aunt, both with trisomyi 10p due to unbalanced segregation of a familial translocation, are also discussed for overlapping features and differential clinical diagnosis of the two conditions. Considering a significant overlap in clinical pictures of Kabuki syndrome and trisomy 10p in these two patients, as well as the previous patients with chromosomal abnormalities, we conclude that chromosomei analysis is an important step in clinical work-up of patients with Kabuki syndrome.

Alternate JournalGenet. Couns.
Citation Key18990985