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.
Identifer | oai:union.ndltd.org:ETSU/oai:dc.etsu.edu:etsu-works-13258 |
Date | 01 January 1997 |
Creators | Garcia-Heras, J., Martin, J. A., Witchel, S. F., Scacheri, P. |
Publisher | Digital Commons @ East Tennessee State University |
Source Sets | East Tennessee State University |
Detected Language | English |
Type | text |
Source | ETSU Faculty Works |
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