Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

A family is described in which a mother and two of her children were mosaic for a small supernumerary ring chromosome. As the origin of the ring chromosome could not be determined by routine cytogenetic studies, fluorescent in situ hybridization was performed, which indicated that the ring chromosom...

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Veröffentlicht in:American journal of medical genetics 2000-05, Vol.92 (2), p.147-152
Hauptverfasser: Tan-Sindhunata, Gita, Castedo, Sérgio, Leegte, Beike, Mulder, Irma, vd Veen, Anneke Y., vd Hout, Annemieke H., Wiersma, Titte J., Van Essen, Anthonie J.
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