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 CASE REPORT
Year : 2015  |  Volume : 10  |  Issue : 1  |  Page : 25-27

West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation


1 Department of Pediatrics, Pediatric Neurology Unit, Adana, Turkey
2 Department of Radiology, Adana Teaching and Medical Research Center, Adana, Turkey
3 Department of Pediatrics, Pediatric Neurology Unit, Baskent University Faculty of Medicine, Ankara, Turkey
4 Department of Medical Genetics, Baskent University, Faculty of Medicine, Adana, Turkey

Correspondence Address:
Semra Saygi
Division of Pediatric Neurology, Baskent University Faculty of Medicine, Adana Teaching and Medical Research Center, Baraj Yolu 1 Durak, Seyhan 01120 Adana
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.154324

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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.






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