title: Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter----q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and "cat eye" phenotypical features.
abstract: A patient with multiple congenital anomalies suggestive of the "Cat eye" syndrome was found to have an extra marker bisatellited chromosome 22 derived from a maternal Y/22 translocation, identified by multiple banding patterns in cultures treated with DA. The proband's karyotype is 47,XX, + psu idic(22)(Yqter----Yq12::22p13----22q11::++ +22q11----22p13::Yq12----Yqter), t(22;Y)(p13;q12)mat., being tetrasomic for 22pter----q11, and trisomic for Yqh. Similarity between his clinical features and reported "Cat eye" cases, confirms that this region is responsible for the phenotypical expression of the syndrome.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy; D014998:Y Chromosome
chemical_list: D005819:Genetic Markers