Summary
We present a family, identified through a girl with “Cri-du-chat syndrome”, in which two different types of recombinants exist [del(5)(qter→p14:) and dup(5)(p13)]. They are due to a 5p paracentric inversion of maternal origin [inv(5) (pter p13)]. We discuss the relationship between the breakpoints and segregation of the inversion carrier, as well as the origin and the identification of the recombinants.
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Valcárcel, E., Benítez, J., Martínez, P. et al. Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5. Hum Genet 63, 78–81 (1983). https://doi.org/10.1007/BF00285405
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DOI: https://doi.org/10.1007/BF00285405