PMID: 9182782Jun 27, 1997Paper

"De novo" duplication Xq23-->Xq26 of paternal origin in a girl with a mildly affected phenotype

American Journal of Medical Genetics
J Garcia-HerasS F Witchel

Abstract

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.

Citations

Feb 24, 2009·Orphanet Journal of Rare Diseases·Damien SanlavilleCatherine Turleau
Jan 27, 2010·American Journal of Medical Genetics. Part a·Christian B RicksDaryl A Scott
Apr 16, 2014·American Journal of Medical Genetics. Part a·Daniela Di BenedettoMarco Fichera
Nov 5, 2004·American Journal of Medical Genetics. Part a·G TachdjianP Labrune
Dec 12, 2002·American Journal of Medical Genetics. Part a·Linlea ArmstrongJudith E Allanson
Aug 13, 2005·American Journal of Medical Genetics. Part a·Paweł StankiewiczIngo Hansmann

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