Summary
A mentally retarded girl with several Turner symptoms had the chromosome constitution 46,X,tel(Xq). The abnormal X chromosome appeared to be completely telocentric and stable. It was late-replicating and formed a smaller than normal Barr body. The origin of telocentric chromosomes is discussed.
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Therman, E., Sarto, G.E. & DeMars, R.I. The origin of telocentric chromosomes in man: A girl with tel(Xq). Hum Genet 57, 104–107 (1981). https://doi.org/10.1007/BF00271180
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DOI: https://doi.org/10.1007/BF00271180