Berend Sue Ann, Bejjani Bassem A, McCaskill Christopher, Shaffer Lisa G
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Am J Med Genet. 2002 Sep 1;111(4):362-5. doi: 10.1002/ajmg.10566.
Carriers of either homologous or non-homologous acrocentric rearrangements are at an increased risk for aneuploidy, and, thus, for uniparental disomy (UPD). Abnormal phenotypes due to genomic imprinting are associated with UPD for the acrocentric chromosomes 14 and 15. The purpose of this study was to determine the prevalence of UPD in a population with acrocentric rearrangements (either an isochromosome or a Robertsonian translocation) and abnormal phenotypes. Fifty individuals were studied. Of the 50 rearrangements, two were homologous rearrangements and both showed UPD. Forty-eight were non-homologous Robertsonian translocations, of which two showed UPD. This study demonstrates that UPD explains the abnormal phenotypes in some balanced carriers of acrocentric rearrangements. Our results and the large number of case reports in the literature suggest that patients with abnormal phenotypes and acrocentric rearrangements of chromosomes 14 or 15 should be tested for UPD.
同源或非同源近端着丝粒重排的携带者发生非整倍体的风险增加，因此发生单亲二倍体（UPD）的风险也增加。由于基因组印记导致的异常表型与近端着丝粒染色体14和15的UPD相关。本研究的目的是确定近端着丝粒重排（等臂染色体或罗伯逊易位）且有异常表型的人群中UPD的发生率。研究了50名个体。在50种重排中，有2种是同源重排，两者均显示为UPD。48种是非同源罗伯逊易位，其中2种显示为UPD。本研究表明，UPD可解释一些近端着丝粒重排平衡携带者的异常表型。我们的结果以及文献中大量的病例报告表明，对于有异常表型且染色体14或15近端着丝粒重排的患者，应检测其是否存在UPD。
