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Prader‐Willi syndrome and chromosomal mosaicism 46, XY/47, XY, + mar in two cases
Author(s) -
Michaelsen Kim Fleischer,
Lundsteen Claes,
Hansen Flemming Juul
Publication year - 1979
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.1399-0004.1979.tb00983.x
Subject(s) - chromosomal translocation , genetics , chromosome , biology , chromosome 15 , karyotype , endocrinology , gene
Two cases of the Prader‐Willi syndrome with 46, XY/47, XY, + mar are reported. The majority of Prader‐Willi patients with chromosome abnormalities have either 15/15 translocations or mosaicism. Both of these aberrations presumably occur after fertilization. A possible relationship between high parental age and chromosome abnormalities in the Prader‐Willi syndrome is discussed.