Summary
A mentally retarded and malformed girl is described. Her karyotype was 46, XX, −13, +rob(13q 13q)/46, XX, r(13) (p11q34),i.e., she was trisomic for a 13 in about 75% of the cells and partially monosomic for a distal part of 13q in about 25% of the cells. Clinical features were compared with those of cases with either trisomy or partial monosomy 13.
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Oka, S., Nakagome, Y., Teramura, F. et al. Trisomy/partial monosomy mosaicism of no. 13 pair [46, XX, −13, +rob(13q13q)/46, XX, r(13) (p11q34)]. Jap J Human Genet 22, 73–78 (1977). https://doi.org/10.1007/BF01874271
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DOI: https://doi.org/10.1007/BF01874271
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