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"De Novo" Duplication Xq23→Xq26 of Paternal Origin in a Girl With a Mildly Affected Phenotype

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. .

Identiferoai:union.ndltd.org:ETSU/oai:dc.etsu.edu:etsu-works-15118
Date27 June 1997
CreatorsGarcia-Heras, Jaime, Martin, Judith A., Day, Donald W., Scacheri, Peter, Witchel, Selma F.
PublisherDigital Commons @ East Tennessee State University
Source SetsEast Tennessee State University
Detected LanguageEnglish
Typetext
SourceETSU Faculty Works

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