“De novo” duplication Xq23→Xq26 of paternal origin in a girl with a mildly affected phenotype

✍ Scribed by Garcia-Heras, Jaime ;Martin, Judith A. ;Day, Donald W. ;Scacheri, Peter ;Witchel, Selma F.

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 466 KB
• Volume: 70
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970627)70:4<404::aid-ajmg13>3.0.co;2-l

✦ Synopsis

We report a de novo dup(X)(q23→q26) in a 3-year-old girl with growth retardation, developmental delay, and minor anomalies. Xinactivation 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. Am. J. Med. Genet. 70:404-408, 1997.