Chromosome duplication (14q) and the genotype phenotype correlation.
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.
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.
Ariane
A
Sadr-Nabavi
Department of Neurology, Mashhad University of Medical Sciences, Ghaem hospital, Mashhad, Iran.
Morteza
M
Saeidi
Chromosome 14; Chromosome Duplication; Mental Retardation