title: Emanuel Syndrome (ES): new case-report and review of the literature.
abstract: Multiple congenital anomalies and craniofacial dysmorphism are characterizing the so-called Emanuel or supernumerary der(22)t(11;22) syndrome (OMIM609029). Mental and developmental retardation are major clinical features. The der(22) may arise from a parental balanced t(11;22)(q23;q11.2) or can be created de novo. Here we present a 2 years old boy with normal prenatal history, cyanotic at delivery and with ear anomalies, a preauricular tag, high-arched palate and micrognathia. There were neither microcephaly, nor heart or kidney defects. Psychological and motor testing at the age of 2 years confirmed significant mental and developmental delay. In addition, the child had seizures and an abnormal electroencephalogram. Cytogenetic and molecular analyses revealed a karyotype 47,XY,+der(22)t(11;22)(q23;q11.2). As parents refused further tests it could not be determined if the der(22) arose de novo or was parentally derived. Overall the present report should alert physician to offer cytogenetic and/or molecular diagnostics in comparable cases.
authors.affiliation: University Clinics of Gynecology and Obstetrics, Medical Faculty, Skopje, R. Macedonia.
authors.forename: S
authors.initials: S
authors.lastname: Jancevska
authors.affiliation: University Clinics of Gynecology and Obstetrics, Medical Faculty, Skopje, R. Macedonia.
authors.forename: M
authors.initials: M
authors.lastname: Kitanovski
authors.affiliation: University Clinic for Endocrinology and Metabolic Diseases, Medical Faculty, Skopje, R. Macedonia.
authors.forename: N
authors.initials: N
authors.lastname: Laban
authors.affiliation: Institute of Epidemiology with Statistics and Medical Informatics, R. Macedonia.
authors.forename: D
authors.initials: D
authors.lastname: Danilovski
authors.affiliation: University Children's Hospital, Medical Faculty, Skopje, R. Macedonia.
authors.forename: V
authors.initials: V
authors.lastname: Tasic
authors.affiliation: University Children's Hospital, Medical Faculty, Skopje, R. Macedonia.
authors.forename: Z S
authors.initials: ZS
authors.lastname: Gucev
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis* / Q000235:genetics; D012640:Seizures / Q000175:diagnosis* / Q000235:genetics