Small Supernumerary Marker Chromosomes Known To Be Correlated with Specific Syndromes



Classically, four clinical syndromes are included in the cytogenetically defined group of patients with a small supernumerary marker chromosome: Emanuel syndrome, cat eye syndrome, Pallister–Killian syndrome, and isochromosome18p syndrome. Besides, there is the special group of patients having mosaic karyotypes 45,X/46,X,+mar who can, but need not have, Turner syndrome phenotype. Sometimes isochromosome 8p, isochromosome 9p, isochromosome 15, and isochromosome 20p syndromes are also mentioned. The four classical cases and the Turner syndrome karyotype case are discussed and patient reports are included.


Turner Syndrome Gonadal Dysgenesis Derivative Chromosome Cytogenetic Characteristic Anal Atresia 
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© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  1. 1.Institut für HumangenetikUniversitätsklinikum JenaJenaGermany

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