De Novo Der(X)T(X;10) (q26;q21) With Features of Distal Trisomy 10q: Case Report of Paternal Origin Identified by Late Replication With BrdU and the Human Androgen Receptor Assay (HAR)
Document Type
Article
Publication Date
1-1-1997
Description
We describe an 11 year old girl with a de novo unbalanced t(X;10) that resulted in a deletion of Xq26→Xqter and a trisomy of 10q21→10qter. Her clinical features were of distal trisomy 10q, but she lacked the cardiovascular and renal malformations observed in duplications of 10q24→10qter and had only moderate mental retardation. X inactivation was assessed on peripheral blood lymphocytes by late replication with BrdU (LR) and the human androgen receptor assay (HAR). By LR the der(X) was inactive without spreading to 10q21→10qter in all cells. The HAR assay showed skewed methylation of the paternal allele (90%). The correlation of HAR and LR suggests that the der(X) was paternally inherited and is consistent with data from other de novo balanced and unbalanced X;autosome translocations detected in females. This is the first report of parental origin of a de novo trisomy 10q.
Citation Information
Garcia-Heras, J.; Martin, J. A.; Witchel, S. F.; and Scacheri, P.. 1997. De Novo Der(X)T(X;10) (q26;q21) With Features of Distal Trisomy 10q: Case Report of Paternal Origin Identified by Late Replication With BrdU and the Human Androgen Receptor Assay (HAR). Journal of Medical Genetics. Vol.34(3). 242-245. https://doi.org/10.1136/jmg.34.3.242 PMID: 9132498 ISSN: 0022-2593