TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION
Makaleler > Tam Makale · 2015
Yazarlar: Tahir ATİK, Emin KARACA, Feriştah Ferda ÖZKINAY, Muhsin Özgür ÇOĞULU
GENETIC COUNSELING, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2015, cilt 26, ss 431-435
Özet
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.