TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION
Articles > Article · 2015
Authors: Tahir ATİK, Emin KARACA, Feriştah Ferda ÖZKINAY, Muhsin Özgür ÇOĞULU
GENETIC COUNSELING, Journal Indexed in SCI Expanded, International, 2015, vol 26, pp 431-435
Summary
Twins with Kleefstra syndrome due to chromosome 9q34.3 microdeletion: Kleefstra or 9q subtelomeric deletion syndrome (9qSTDS) is a rare microdeletion syndrome. The most prominent phenotypic features include hypotonia, developmental retardation, as well as typical dysmorphic face. It has been shown that terminal deletions of the chromosome 9q34.3 region, or EHMT1 gene mutations, lead to Kleefstra syndrome.