Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature
- 7 June 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 43 (3) , 621-625
- https://doi.org/10.1002/ajmg.1320430324
Abstract
We report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3:1 in half of the cases, but these observations might be due to biases. The other chromosomes involved in the translocations as well as the breakpoints in these chromosomes do not appear to be random.Keywords
This publication has 16 references indexed in Scilit:
- Abnormality of chromosome 16 and its phenotypic expressionClinical Genetics, 2008
- ImmunocytogeneticsCytogenetic and Genome Research, 1990
- Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocationAmerican Journal of Medical Genetics, 1987
- Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocationAmerican Journal of Medical Genetics, 1985
- Partial trisomy 16p due to maternal balanced translocation.Journal of Medical Genetics, 1984
- Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segmentAmerican Journal of Medical Genetics, 1983
- Five familial cases with a trisomy 16p syndrome due to translocationClinical Genetics, 1979
- Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16.Journal of Medical Genetics, 1978
- Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects:Madison blind study IVClinical Genetics, 1976
- Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.Journal of Medical Genetics, 1975