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

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Erol I., Saygi S., Demir S., Alehan F., ŞAHİN F. İ.

JOURNAL OF PEDIATRIC NEUROSCIENCES, vol.10, no.1, pp.25-27, 2015 (ESCI)

• Publication Type: Article / Article
• Volume: 10 Issue: 1
• Publication Date: 2015
• Doi Number: 10.4103/1817-1745.154324
• Journal Name: JOURNAL OF PEDIATRIC NEUROSCIENCES
• Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
• Page Numbers: pp.25-27
• Çukurova University Affiliated: No

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.