Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review

Clinical Genetics
Katherine A RauenP D Cotter

Abstract

Mosaicism for tandem duplications is rare. Most patients reported had abnormal phenotypes of varying severity, depending on the chromosomal imbalance involved and the level of mosaicism. Post-zygotic unequal sister-chromatid exchange has been proposed as the main mechanism for tandem duplication mosaicism. However, previous molecular analyses have implicated both meiotic and post-zygotic origins for the duplication. We describe a newborn male who was originally diagnosed in utero with arrhythmia and tetralogy of Fallot. He had multiple dysmorphic features including telecanthus, blepharophimosis, high broad nasal bridge with a square-shaped nose, flat philtrum, thin upper lip, down-turned corners of the mouth, high-arched palate, micrognathia, asymmetric ears, and long, thin fingers and toes. Karyotyping of peripheral blood lymphocytes showed mosaicism for a tandem duplication of part of the long arm of one chromosome 5: mos46,XY,dup(5)(q13q33)[6]/46,XY[45]. Fibroblast cultures had the same mosaic karyotype with a higher frequency of the dup(5) clone: mos46,XY,dup(5)(q13q33)[9]/46,XY[21]. Fluorescence in situ hybridization analysis with a wcp5 confirmed the chromosome 5 origin of the additional material. Parental karyotypes were...Continue Reading

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Citations

May 27, 2004·The American Journal of Pathology·Stella Marie Reamon-BuettnerJuergen Borlak
Jun 14, 2006·American Journal of Medical Genetics. Part a·Chih-Ping ChenWayseen Wang
Jan 30, 2007·American Journal of Medical Genetics. Part a·Caterina CeccariniBruno Dallapiccola
Apr 26, 2005·Prenatal Diagnosis·Laura BernardiniBruno Dallapiccola
Jan 27, 2010·American Journal of Medical Genetics. Part a·Ying S ZouJeff M Milunsky
Jul 5, 2013·American Journal of Medical Genetics. Part a·Atsushi FujitaNoriko Miyake

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