Replication error, a new hypothesis to explain the origin of a supernumerary marker chromosome in a mentally retarded boy
Open Access
- 14 February 2008
- journal article
- research article
- Published by Springer Nature in Hereditas
- Vol. 111 (2) , 115-123
- https://doi.org/10.1111/j.1601-5223.1989.tb00385.x
Abstract
A marker chromosome present in all the lymphocytes of a mentally retarded boy (47,XY,+mar) was identified. The karyotype of all fibroblasts was normal, 46,XY. His parents had normal karyotypes. The supernumerary marker chromosome was interpreted as a dicentric palindromic chromosome iso(9) (pter .fwdarw. q12, q12 .fwdarw. pter). The marker chromosome may have originated through a ligation error in a replication fork during the S-phase followed by a new replication (endoreduplication).This publication has 12 references indexed in Scilit:
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