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Case Reports
. 1992 Jan;41(1):51-3.
doi: 10.1111/j.1399-0004.1992.tb03630.x.

Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)

M L Ramírez-Dueñas  1 , C Medina, R Ocampo-Campos, H Rivera
Affiliations
Case Reports

Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)

M L Ramírez-Dueñas et al. Clin Genet. 1992 Jan.

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.

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