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).

Abstract

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.

• Authors: J Garcia-Heras, J A Martin, S F Witchel, P Scacheri
• Journal: Journal of medical genetics (J Med Genet) Vol. 34 Issue 3 Pg. 242-5 (Mar 1997) ISSN: 0022-2593 [Print] England
• PMID: 9132498 (Publication Type: Case Reports, Journal Article)

Chemical References

• Receptors, Androgen
• Bromodeoxyuridine

Topics

• Abnormalities, Multiple (genetics)
• Bromodeoxyuridine
• Child
• Chromosome Deletion
• Chromosomes, Human, Pair 10 (genetics)
• DNA Replication
• Developmental Disabilities (genetics)
• Dosage Compensation, Genetic
• Female
• Humans
• Receptors, Androgen (genetics)
• Translocation, Genetic
• Trisomy (genetics)
• X Chromosome (genetics)