| چکیده انگلیسی مقاله |
49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis,cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly,hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate,down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (PDA), Atrial septaldefect (ASD), mild pulmonary stenosis. Among the skeletal anomalies, he has kyphoscoliosis, clinodactylyof the fourth and fifth fingers of both hands, and bilateral club foot and unilateral dysplasia of the hip.Karyotype was found as 49,XXXXY[44]/48,XXXY[6] and this cytogenetic analysis was help to establishclinical diagnosis Fraccaro syndrome. |
