"De Novo" Duplication Xq23→Xq26 of Paternal Origin in a Girl With a Mildly Affected Phenotype
Document Type
Article
Publication Date
6-27-1997
Description
We report a de novo dup(X)(q23→q26) in a 3-year-old girl with growth retardation, developmental delay, and minor anomalies. X-inactivation in lymphocytes by BRDU labeling showed the abnormal X was late replicating. The androgen receptor assay (HAR) demonstrated a skewed methylation (88.8%) of the paternal allele and a 11.2% methylation of the maternal allele. These data, which suggest the duplication was paternally inherited, are the first parental-origin identification of a duplication Xq. The mild phenotype of the patient may be related to the size and region of the duplication, the low percentage of a dup(X) active detected by the HAR assay, or a combination of these mechanisms. .
Citation Information
Garcia-Heras, Jaime; Martin, Judith A.; Day, Donald W.; Scacheri, Peter; and Witchel, Selma F.. 1997. "De Novo" Duplication Xq23→Xq26 of Paternal Origin in a Girl With a Mildly Affected Phenotype. American Journal of Medical Genetics. Vol.70(4). 404-408. https://doi.org/10.1002/(sici)1096-8628(19970627)70:4<404::aid-ajmg13>3.0.co;2-l PMID: 9182782 ISSN: 1552-4825