A small supernumerary marker chromosome X identified by in situ hybridization |
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Authors: | Asli N Silahtaroglu Seniha Hacihanefioglu Sükriye Yilmaz Yelda Tarkan Asim Cenani Zeynep Tümer |
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Institution: | Division of Biomedical Sciences, Cerrahpasa Medical Faculty, Istanbul University, Turkey;The John F. Kennedy Institute, Glostrup, Denmark |
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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. |
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Keywords: | alpha satellite centromeric probes chromosome painting fluorescence in situ hybridization supernumerary marker chromosome X chromosome |
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