title: Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features.
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.
authors.affiliation: Department of Medical Biology, Cerrahpasa School of Medicine, Istanbul University, Istanbul, Turkey. yosunkayafenerci@hotmail.com
authors.forename: E
authors.initials: E
authors.lastname: Yosunkaya Fenerci
authors.forename: G S
authors.initials: GS
authors.lastname: Guven
authors.forename: D
authors.initials: D
authors.lastname: Kuru
authors.forename: S
authors.initials: S
authors.lastname: Yilmaz
authors.forename: Y
authors.initials: Y
authors.lastname: Tarkan-Argüden
authors.forename: A
authors.initials: A
authors.lastname: Cirakoglu
authors.forename: A
authors.initials: A
authors.lastname: Deviren
authors.forename: A
authors.initials: A
authors.lastname: Yüksel
authors.forename: S
authors.initials: S
authors.lastname: Hacihanefioğlu
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000235:genetics*; D003456:Cryptorchidism / Q000150:complications* / Q000235:genetics*; D020732:Cytogenetic Analysis; D005704:Gallbladder / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D008099:Liver / Q000002:abnormalities; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications* / Q000235:genetics*; D010179:Pancreas / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic