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Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa by Alina T. Midro; Ewa Wiland; Barbara Panasiuk; Ryszard Leśniewicz; Maciej Kurpisz is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract We performed the segregation analysis of a relatively large pedigree of t(7;13)(q34;q13) carriers together with the sperm karyotype analysis of the one carrier using a tri‐color fluorescence in situ hybridization (FISH) method. The risk assessments for unfavorable pregnancy outcomes in a series of 36 pregnancies in eight reciprocal chromosome translocation (RCT) couples of carriers were estimated directly from a pedigree after ascertainment correction. The individual probability rate for unbalanced child was predicted according to Stengel‐Rutkowski and co‐workers. The unbalanced karyotypes in the form of monosomy 7q34 → qter and trisomy 13q13 → qter were detected among stillborn/early death newborns with holoprosencephaly (HPE), cyclopia and other malformations. Based on clinical description of unkaryotyped stillbirth progeny, it can be assumed that the phenotype distinctions were connected with the unbalanced karyotype from 2:2 segregation (monosomy 7q with trisomy 13q) and 3:1 segregation as interchange trisomy 13 (Patau syndrome). Probability rates for miscarriages, stillbirth/early death were 12.9 ± 6% (4/31) and 29 ± 8.2% (9/31), respectively. The results of the me

Who reads Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa?

Author

Alina T. Midro; Ewa Wiland; Barbara Panasiuk; Ryszard Leśniewicz; Maciej Kurpisz

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)

Published

2006

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)