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


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

JOURNAL OF PEDIATRIC NEUROSCIENCES, cilt.10, ss.25-27, 2015 (ESCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 10 Konu: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4103/1817-1745.154324
  • Dergi Adı: JOURNAL OF PEDIATRIC NEUROSCIENCES
  • Sayfa Sayısı: ss.25-27

Özet

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.