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Severe Silver‐Russell syndrome and translocation (17;20) (q25;q13)
Author(s) -
RamírezDueñas M. L.,
Medina C.,
OcampoCampos R.,
Rivera H.
Publication year - 1992
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.1399-0004.1992.tb03630.x
Subject(s) - chromosomal translocation , genetics , genomic imprinting , phenotype , biology , girl , imprinting (psychology) , uniparental disomy , gene , chromosome , microbiology and biotechnology , karyotype , gene expression , dna methylation
Ramírez‐Dueñas ML, Medina C, Ocampo‐Campos R, Rivera H. Severe Silver‐Russell syndrome and translocation (17;20)(q25;q13). Clin Genet 1992:41: 51–53. An 8‐year‐8‐month‐old girl with Silver‐Russell syndrome (SRS) and a paternally inherited balanced t(17;20)(q25;q13) is described. This observation suggests that an SRS gene(s) maps on chromosome 17 or 20 and that the patient phenotype resulted from either unmasking of heteroz‐ygosity or genomic imprinting via paternal disomy.