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- W2169461492 abstract "We report on a case of Prader-Willi syndrome (PWS) with a true reciprocal unbalanced translocation, 45,XX,-15,der(11)t(11;15)pat. The proposita was diagnosed clinically as having severe PWS. Molecular studies revealed loss of the paternal methylation pattern at locus D15S63 and a deletion encompassing the loci from at least D15S10 to D15S97 of paternal chromosome 15. FISH studies confirmed the deletion of 15q11-q13 region and the presence of two telomeres on all chromosomes. The proposita's father, the father's sister and their mother are all carriers of the same balanced translocation t(11;15)(q25;q13). By genomic imprinting we would expect that if the father's sister were to give birth to a child with the same unbalanced translocation as the proband, it would be affected by Angelman syndrome. To date, a similar familial unbalanced translocation due to loss of the small chromosome 15 derivative has not been described." @default.
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- W2169461492 date "2008-04-23" @default.
- W2169461492 modified "2023-10-14" @default.
- W2169461492 title "A case of Prader - Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)" @default.
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- W2169461492 doi "https://doi.org/10.1111/j.1399-0004.1998.tb03695.x" @default.
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