Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features


Fenerci E. Y. , Guven G. S. , Kuru D., Yilamz S. , Tarkan-Argueden Y., Cirakoglu A., ...More

Genetic Counseling, vol.18, no.4, pp.401-408, 2007 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 4
  • Publication Date: 2007
  • Title of Journal : Genetic Counseling
  • Page Numbers: pp.401-408

Abstract

Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome. We report a nine-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother, and originated in the maternal grandmother's meiosis. In addition to mental retardation, hypotonia, craniofacial anomalies, and cryptorchidism, he has novel findings such as, joint hyperextensibility, left liver lobe agenesis, left sided malposition of the gallbladder and pancreas hypoplasia. This is the first report associating these features with Emanuel syndrome.