title: [Complete trisomy 22].
abstract: In a 2 6/12-years-old girl a complete trisomy 22 was verified with the G-banding (CTG-technique). She presented with Pierre-Robin-Sequence, cardiac and renal malformations, craniofacial dysmorphia and psychomotoric retardation as it often occurs in trisomy 22. Additionally, we observed tonic-clonic seizures, remarkable dumbles on both elbows and a clavicular anomaly.
authors: Universitäts-Kinderklinik Jussuf Ibrahim, Jena.
authors: K
authors: K
authors: Wollina
authors: J
authors: J
authors: Seidel
authors: M
authors: M
authors: Kirchner
authors: V
authors: V
authors: Beensen
authors: C
authors: C
authors: Kelbova
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000175:diagnosis / Q000235:genetics*; D014314:Trisomy
vernacular_title: Komplette Trisomie 22.