Ruiz ML Author

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A Rare Case of Isodicentric Xq28 that Causes Mental Retardation: Molecular Characterization and Review

Author(s):

Gonzalez  C, Gutierrez M,  Ruiz ML, Huete B, Gonzalez S, Gallego J and Cava F

Study background: Isodicentric X chromosome is a rare structural abnormality in which the arms of the chromosome are mirror images of each other with two centromeres. Little description is available about characterization or phenotype-genotype association in isodicentric Xq28. While some of the females are normal, most only present premature ovarian failure or amenorrhea, but mental retardation is not usually reported.

Methods: We present a study of cytogenetic and molecular characterization of an isodicentric Xq28 found in a development retarded girl with dysmorphic features. G and C banding, CGH array and Bisulfite Methylation techniques were used.

Results: The study showed an almost... view more»

DOI: 10.4172/2327-5790.1000154

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