title: A small supernumerary marker chromosome X identified by in situ hybridization.
abstract: Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome. To our knowledge, this is the first reported case of a female patient mosaic for a supernumerary small marker chromosome derived from X, and hence mosaic for trisomy of the pericentric region of the X chromosome.
authors.affiliation: Division of Biomedical Sciences, Cerrahpasa Medical Faculty, Istanbul University, Turkey.
authors.forename: A N
authors.initials: AN
authors.lastname: Silahtaroglu
authors.forename: S
authors.initials: S
authors.lastname: Hacihanefioglu
authors.forename: S
authors.initials: S
authors.lastname: Yilmaz
authors.forename: Y
authors.initials: Y
authors.lastname: Tarkan
authors.forename: A
authors.initials: A
authors.lastname: Cenani
authors.forename: Z
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D015342:DNA Probes; D004276:DNA, Satellite; D005145:Face / Q000002:abnormalities; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D013064:Speech Disorders / Q000235:genetics; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D004276:DNA, Satellite; D005819:Genetic Markers