Partial trisomy 13 as a result of de novo (6p;13q) translocation
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 48 (2) , 245-249
- https://doi.org/10.1007/bf00286911
Abstract
A newborn infant with the clinical features of the Patau syndrome was found to have excess chromosome 13 material present as a tandem translocation involving the short arm of chromosome 6 and the long arm of an extra chromosome 13: 46,XY,t(6;13)(p24;q12). The major part of the long arm of the extra chromosome 13 was attached linearly (tandem translocation) to the short arm of chromosome 6. Both parents were phenotypically and karyotypically normal.This publication has 4 references indexed in Scilit:
- Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformationsClinical Genetics, 1976
- Incidence of chromosome aberrations among 11 148 newborn childrenPublished by Springer Nature ,1975
- An Analysis of the Break Points of Structural Rearrangements in ManJournal of Medical Genetics, 1974
- Chromosomal Variability in the D1 Trisomy SyndromeAmerican Journal of Diseases of Children, 1970