Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons.
- 1 October 1986
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 23 (5) , 446-451
- https://doi.org/10.1136/jmg.23.5.446
Abstract
With the aid of high resolution chromosome banding, a t(3;20) translocation was discovered in a large family with six retarded members. The translocation involved very small terminal segments. The unbalanced products resulting in partial trisomy 20q and monosomy 3p were observed in the retarded subjects. Gene localization studies of the ADA gene, with a presumed locus on the long arm of chromosome 20, were also carried out and seem to exclude this gene from the distal part of 20q (20q13.1 .fwdarw. qter).This publication has 14 references indexed in Scilit:
- Purine Metabolizing Enzymes in Lymphocytes from Patients with Solid TumorsActa Medica Scandinavica, 1984
- Confirmation of the regional localization of the genes for human acid alpha‐glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridizationAnnals of Human Genetics, 1984
- Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomiesAnnals of Human Genetics, 1982
- Regional mapping of ADA and ITP on human chromosome 20: cytogenetic and somatic cell studies in an X/20 translocationCytogenetic and Genome Research, 1980
- Regional assignment of the ADA locus on 20q13.2→qter by gene dosage studiesCytogenetic and Genome Research, 1980
- Trisomy 20q due to maternal t(16;20) translocation First caseClinical Genetics, 1979
- Partial trisomy 20 confirmed by gene dosage studiesAmerican Journal of Medical Genetics, 1979
- FAMILIAL TRISOMY 20P 5 CASES AND 2 CARRIERS IN 3 GENERATIONS - REVIEW1977
- High Resolution of Human ChromosomesScience, 1976
- Assignment of Adenosine Deaminase to Chromosome 20Cytogenetic and Genome Research, 1974