At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.
Open Access
- 1 January 1997
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 34 (1) , 18-23
- https://doi.org/10.1136/jmg.34.1.18
Abstract
Carriers of balanced reciprocal translocations may have a (high) risk for producing liveborn children with an unbalanced karyotype. We report a large family in which a translocation between the long arm of chromosome 11 and the short arm of chromosome 13 is segregating in at least five generations. During the course of our study 15 carriers of the balanced translocation were identified and nine cases of partial trisomy of the long arm of chromosome 11 were detected during pre- and postnatal studies. Several of the patients were thoroughly clinically examined and compared with similar published cases.Keywords
This publication has 27 references indexed in Scilit:
- Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literatureClinical Genetics, 2008
- Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generationsHuman Genetics, 1979
- Partial trisomy 11q as the result of sporadic translocationHuman Genetics, 1979
- Trisomy 11q(q21 leads to qter).1978
- Duplication 11 (q21 to 23 leads to qter) syndrome.1977
- PARTIAL TRISOMY FOR LONG ARM OF CHROMOSOME 11 DUE TO T(11 - 22)(Q231 - Q111) TRANSLOCATION1976
- [2 cases of trisomy 11q(q23.2-- qter) with the same abnormality of external genitalia].1975
- [2 cases of trisomy 11q(q231--qter) by translocation t(11;22) (q231;q111) in 2 different families].1975
- An (11;21) Translocation in Four Generations with Chromosome 11 Abnormalities in the OffspringHuman Heredity, 1973
- Cri-du-chat syndrome combined with partial C-group trisomy.Journal of Medical Genetics, 1972