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Sister chromatid exchange analysis of the 15q11 region in Prader-Willi syndrome patients

✍ Scribed by Sharon L. Wenger; Samuel D. Rauch; Jeanne M. Hanchett

Publisher
Springer
Year
1989
Tongue
English
Weight
541 KB
Volume
83
Category
Article
ISSN
0340-6717

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Familial translocation t(Y;15)(q12;p11)
Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13
✍ Eliez, Stephan; Morris, Michael A.; Dahoun-Hadorn, Sophie; DeLozier-Blanchet, C. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 351 KB πŸ‘ 1 views

We describe a 17-year-old girl with mild Prader-Willi syndrome (PWS) due to 15q11-q13 deletion. The deletion occurred on a paternal chromosome 15 already involved in a translocation, t(Y;15)(q12;p11), the latter being present in five other, phenotypically normal individuals in three generations. Thi