Article
Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype.
American journal of medical genetics - 15 May 2000
Tan-Sindhunata G, Castedo S, Leegte B, Mulder I, vd Veen A Y, vd Hout A H, Wiersma T J, van Essen A J
Abstract excerpt
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 chromosome was derived from the pericentromeric region of chromosome 7. Further characterization with a YAC-probe showed the...
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