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A case of Prader – Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)
Author(s) -
Walasek Malgorzata Krajewska,
Gutkowska Anna,
Bielińska Beata,
GorylukKozakiewicz Bozenna,
Popowska Ewa
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb03695.x
Subject(s) - chromosomal translocation , genetics , medicine , pediatrics , biology , gene
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.