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. 2014 Apr;8(1):95-8.
Epub 2014 Mar 9.

Chromosome duplication (14q) and the genotype phenotype correlation

Ariane Sadr-Nabavi  1 , Morteza Saeidi  2
Affiliations

Chromosome duplication (14q) and the genotype phenotype correlation

Ariane Sadr-Nabavi et al. Int J Fertil Steril. 2014 Apr.

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 14; Chromosome Duplication; Mental Retardation.

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Figures

Fig 1
Fig 1
Examination revealed evidence of generalized weakness with reduced muscle tone and diminishment. Patient was unable to walk unassisted and also had difficulty sitting.
Fig 2
Fig 2
Banding of chromosome 14 [dup (14)].
See this image and copyright information in PMC

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