West Syndrome Associated with A Novel Chromosomal Anomaly; Partial Trisomy 8P Together with Partial Monosomy 9P, Resulting from A Familial Unbalanced Reciprocal Translocation

Erol, IlknurSaygi, SemraDemir, SenayAlehan, FusunSahin, Feride Iffet2023-11-282023-11-2820151817-1745http://hdl.handle.net/11727/10940West 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.enginfo:eu-repo/semantics/closedAccessDysmorphic featurespartial trisomy 8p together with partial monosomy 9pwest syndromeWest Syndrome Associated with A Novel Chromosomal Anomaly; Partial Trisomy 8P Together with Partial Monosomy 9P, Resulting from A Familial Unbalanced Reciprocal Translocationarticle10125270003704021000072-s2.0-849276458181998-3948