Prader-Willi syndrome and chromosomal mosaicism 46, XY/47, XY, + mar in two cases

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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.

Original languageEnglish
JournalClinical Genetics
Volume16
Issue number3
Pages (from-to)147-150
Number of pages4
ISSN0009-9163
DOIs
Publication statusPublished - 1979

ID: 258037437