Chromosome Duplication (14q) and The Genotype Phenotype Correlation

International Journal of Fertility and Sterility

Ariane Sadr-Nabavi¹  Morteza Saeidi² 

[1]Department of Medical Genetic, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

[2]Iranian Academic Center for Education, Culture and Research (ACECR), Mashhad, Iran

关键词: chromosome duplication;    mental retardation;    chromosome 14;   

DOI  :  

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown