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Case Reports
. 1983;63(1):78-81.
doi: 10.1007/BF00285405.

Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5

E Valcárcel, J Benítez, P Martínez, J A Rey, A Sánchez Cascos
Case Reports

Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5

E Valcárcel et al. Hum Genet. 1983.

Abstract

We present a family, identified through a girl with "Cri-du-chat syndrome", in which two different types of recombinants exist [del(5)(qter leads to 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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References

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