Sadr-Nabavi Ariane, Saeidi Morteza
Department of Medical Genetic, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran ; Iranian Academic Center for Education, Culture and Research (ACECR), Mashhad, Iran ; Medical Genetic Research Center (MGRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Department of Neurology, Mashhad University of Medical Sciences, Ghaem hospital, Mashhad, Iran.
Int J Fertil Steril. 2014 Apr;8(1):95-8. Epub 2014 Mar 9.
The rearrangement of chromosome 14 is a rare cytogenetic finding. Changes in the number or structure of chromosome 14 can have a variety of effects, such as delayed growth and development, and distinctive facial features. The human chromosome 14 plays an important role in imprinting events importunes of a structural rearrangement is specifically when a phenotype is caused by imprinting, whereby the interpretation of genotype-phenotype correlation becomes extremely difficult. In this study, we examined a 3 year-old mentally impaired girl with unusual facial features. G-banding showed terminal duplication of chromosome 14 in the karyotype of the patient. In this particular case, we explained a phenotype genotype correlation in a patient with a dup (14) rearrangement, thus emphasizing the importance of prenatal diagnosis for pregnancies with an abnormal nuchal translucency.
14号染色体重排是一种罕见的细胞遗传学发现。14号染色体数量或结构的改变可产生多种影响，如生长发育迟缓及独特的面部特征。人类14号染色体在印记事件中起重要作用，结构重排尤其重要的情况是当表型由印记引起时，此时基因型与表型相关性的解释变得极其困难。在本研究中，我们检查了一名3岁、面部特征异常的智力障碍女孩。G显带显示患者核型中14号染色体末端重复。在这个特殊病例中，我们解释了一名dup(14)重排患者的表型与基因型的相关性，从而强调了对颈项透明层异常妊娠进行产前诊断的重要性。
