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Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)
M L Ramírez-Dueñas1, C Medina, R Ocampo-Campos
1División de Genética, Hospital de Pediatría, I.M.S.S., Guadalajara Jalisco, Mexico.
Clinical Genetics
|January 1, 1992
Abstract:
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 heterozygosity or genomic imprinting via paternal disomy.