Chromosome Duplication (14q) and The Genotype Phenotype Correlation
نویسندگان
1 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), S
2 4Department of Neurology, Mashhad University of Medical Sciences, Ghaem hospital, Mashhad, Iran
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چکیده
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.
