TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION


ATİK T. , KARACA E. , ÖZKINAY F. F. , Cogulu O.

GENETIC COUNSELING, cilt.26, ss.431-435, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 26 Konu: 4
  • Basım Tarihi: 2015
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: 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.