title: West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation.
abstract: West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9) (p11.2;p22) and presenting with macrocephaly, West syndrome, severe mental motor retardation and hypotonia. As far as we know, this is a new chromosomal anomaly associated with West syndrome.
authors: Department of Pediatrics, Pediatric Neurology Unit, Adana, Turkey.
authors: Ilknur
authors: I
authors: Erol
authors: Department of Pediatrics, Pediatric Neurology Unit, Adana, Turkey.
authors: Semra
authors: S
authors: Saygı
authors: Department of Radiology, Adana Teaching and Medical Research Center, Adana, Turkey.
authors: Şenay
authors: Ş
authors: Demir
authors: Department of Pediatrics, Pediatric Neurology Unit, Baskent University Faculty of Medicine, Ankara, Turkey.
authors: Fusun
authors: F
authors: Alehan
authors: Department of Medical Genetics, Baskent University, Faculty of Medicine, Adana, Turkey.
authors: Feride Iffet
authors: FI
authors: Sahin
keywords: Dysmorphic features; partial trisomy 8p together with partial monosomy 9p; west syndrome