A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation
- 1 January 1976
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 32 (3), 343-348
- https://doi.org/10.1007/bf00295827
Abstract
A family with autosomal reciprocal translocation t(4;13) (q25;q31) with a sibship comprising 2 children with unbalanced karyotypes, der(13) partial trisomy 4q, 1 child with the balanced translocation, and 2 abortions were studied. The segregation risk of unbalanced derivation in reciprocal translocations is discussed. The clinical picture of the 2 children with partial trisomy 4q is compared with similar cases.This publication has 12 references indexed in Scilit:
- Uneinheitlicher Phänotyp bei Partialtrisomie 4qHuman Genetics, 1975
- Incidence of chromosome aberrations among 11 148 newborn childrenPublished by Springer Nature ,1975
- Presumably balanced translocations involving the same band of chromosome No. 4 found in two mentally retarded, dysmorphic individuals.1974
- Translocation, t(4q-;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generationJournal of Medical Genetics, 1974
- Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4q?;18q+)Human Genetics, 1974
- Segregating Reciprocal (4;21) (q21;q21) Translocation with Proposita Trisomic for Parts of 4q and 21Journal of Medical Genetics, 1973
- Chromosome studies in 5,049 consecutive newborn childrenClinical Genetics, 1973
- [Partial B trisomy in cat-cry-syndrome (author's transl)].1973
- Partial trisomy 4 resulting from a 4-18 reciprocal translocation.1972
- The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variabilityHereditas, 1971