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Melkersson‐Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation
Author(s) -
Smeets E.,
Fryns J. P.,
Berghe H.
Publication year - 1994
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.1399-0004.1994.tb04041.x
Subject(s) - chromosomal translocation , genetics , biology , medicine , microbiology and biotechnology , gene
In this report we describe a 26‐year‐old female with the typical clinical symptoms and signs of Melkersson‐Rosenthal syndrome, an autosomal dominant disorder with variable expression, and a de novo t(9;21)(p11;p11), and suggest that the “Melkersson‐Rosenthal gene” is located at 9p11.