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Prader‐Willi syndrome and Robertsonian translocations involving chromosome 15
Author(s) -
Casamassima Anthony C.,
Shapiro Lawrence R.,
Wilmot Patrick L.,
Smith Karen Berk
Publication year - 1991
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.1399-0004.1991.tb03028.x
Subject(s) - chromosomal translocation , robertsonian translocation , biology , genetics , chromosome , chromosome 21 , karyotype , gene
A case of Prader‐Willi syndrome is presented in which high resolution chromosome analysis revealed not only a familial Robertsonian translocation (t(13q15q)], but also a del (15) (q11.2q13) of the chromosome 15 not involved in the translocation. While there have been numerous reports of Robertsonian translocations involving chromosome 15 in patients with Prader‐Willi syndrome, in this case, the Robertsonian translocation was shown to be unrelated to the clinical findings.