Partial trisomies 9 and 4 resulting from maternal translocation t(4; 9) (q25?; q13)

Summary

A female infant of partial trisomies 9 and 4 resulting from a maternal balanced translocation was described. The karyotype was designated as 47,XX,+der(9),t(4; 9) (q25?; q13)mat. Her phenotype was in accordance with the trisomy 9p syndrome, but the mental retardation and malformation pattern seemed much more pronounced. Moreover, she showed slowly progressive hydrocephaly, an unusual finding either in trisomy 9p or in partial trisomy 4q. A possible relationship of trisomy for 9q11→9q13 to the appearance of hydrocephaly was suggested. The cytogenetic findings in the present case provided a further evidence that the involvement of a chromosome 9 in reciprocal translocations may predispose to 31 meiotic disjunction.

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Narahara, K., Kodama, Y., Kanzaki, S. et al. Partial trisomies 9 and 4 resulting from maternal translocation t(4; 9) (q25?; q13). Jap J Human Genet 26, 47–54 (1981). https://doi.org/10.1007/BF01871372

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Keywords

  • Cancer Research
  • Mental Retardation
  • Reciprocal Translocation
  • Female Infant
  • Balance Translocation

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