The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship
- 1 January 1978
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 43 (1) , 111-114
- https://doi.org/10.1007/bf00396487
Abstract
A family is presented in which there were three different chromosome abnormalities in the children although the parents were cytogenetically normal. The proband had the karyotype 46,XX,r(18)(p11q23), a phenotypically normal brother was 47,XY,+mar, and another brother was a typical case of Down's syndrome, karyotype 47,XY,+21. There is nothing in the parents' history that provides grounds for a hypothesis to explain the coincidence of the abnormalities.This publication has 4 references indexed in Scilit:
- Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.Journal of Medical Genetics, 1975
- [Familial translocation t(6; 18) (q16; q16; q23) with free 21 trisomy].1974
- Clinical Features Associated with the Chromosomal Deletion Syndrome Manifested by an 18 Ring (46,18r)Southern Medical Journal, 1973
- [Transmission of a small supernumerary chromosome in a family with two cases of 21 trisomy].1968