Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature.

TitleKabuki syndrome: description of a 2-year old Roumanian boy and review of the literature.
Publication TypeJournal Article
Year of Publication2007
AuthorsIoan DM, Fryns J-P
JournalGenetic counseling (Geneva, Switzerland)
Volume18
Issue1
Pagination113-7
Date Published2007
Abstract

We report on a 2-year-old boy presenting the cardinali features of the Kabuky syndrome i.e. peculiar face, short stature moderate mental retardation, padded fingers, padded toes and shawl scrotum. Karyotypei was 46, XY. Fish tests for microdeletion: 22q11 and 16q (Rubinstein Tayby) were normal.

Alternate JournalGenet. Couns.
Citation Key17515307