Abstract
We report an 18-year-old girl with premature ovarian failure (POF), tall stature, and urinary incontinence. Chromosome studies including array comparative genomic hybridization showed that she was the carrier of an unbalanced de novo translocation between the X chromosome and chromosome 11, resulting in partial monosomy Xq and partial trisomy 11p. Microsatellite analysis demonstrated that the patient had paternal duplication of 11p13p15.5, which contributed to some of her features consistent with Beckwith-Wiedemann syndrome (BWS). The combined phenotype of BWS and POF suggests that the translocated portion of 11p remains active.
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This paper was supported by the Dong-A University Research Fund in 2005.
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Han, JY., Shin, JH., Han, MS. et al. Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith–Wiedemann syndrome. J Hum Genet 51, 641–643 (2006). https://doi.org/10.1007/s10038-006-0409-2
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DOI: https://doi.org/10.1007/s10038-006-0409-2
