@article { author = {Sadr-Nabavi, Ariane and Saeidi, Morteza}, title = {Chromosome Duplication (14q) and The Genotype Phenotype Correlation}, journal = {International Journal of Fertility and Sterility}, volume = {8}, number = {1}, pages = {95-98}, year = {2014}, publisher = {Royan Institute, Iranian Academic Center for Education Culture and Research (ACECR)}, issn = {2008-076X}, eissn = {2008-0778}, doi = {}, abstract = {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.}, keywords = {Chromosome Duplication,Mental Retardation,Chromosome 14}, url = {https://www.ijfs.ir/article_45227.html}, eprint = {https://www.ijfs.ir/article_45227_be999651c9d01ca5d5cb3f33631167b2.pdf} }