Double jeopardy : Identification of a Fragile X full mutation associated with Turner Syndrome in a prenatal case.

Onderzoeksoutput: Meeting abstract (Book)

Samenvatting

Instable and methylated expansions of a CGG triplet repeat located in the 5' upstream region of the FMR1 gene result in Fragile X syndrome, a common cause of X-linked intellectual disability. Turner syndrome is the result of a partial or total absence of one of the sex chromosomes. Most of the cases result from the loss of the paternal X chromosome.
Here we report on the diagnosis of a FMR1 full mutation and a 45,X/46,XX mosaic in a female fetus. The mother is a carrier of a high risk premutation FMR1 allele of 91-96 CGG repeats. Excessive permutations are prone to a full mutation expansion upon meiosis. In addition, fetal echografic analysis at 10 weeks of gestation revealed an increased nuchal translucency for this pregnancy.
Chorionic villi were analyzed for both their Fragile X and karyogram status, directly and after culturing. Molecular analysis on immediately processed villi by TP-PCR techniques (AmplideXTM FMR1 PCR Kit) revealed an FMR1 full mutation. The karyotype indicated the absence of an X-chromosome in one out of 12 analyzed metaphases. Four others methaphases were also aneuploid, each for different autosomes. Subsequent investigation of cultured villi disclosed a full Turner syndrome, but the absence of the fully expanded FMR1 allele, identifying the lost chromosome as carrier of the full mutation FMR1 allel. Reanalysis of the short term culture by FISH revealed a mosaic X/XX in 24% of nuclei.
(Mosaic) Turner syndrome in full mutation FMR1 carriers has been reported before.
Originele taal-2English
TitelBeSHG
Pagina's74-74
Aantal pagina's1
StatusPublished - 15 mrt 2013

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NummerP28

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