Case Reports
doi: 10.1111/j.1399-0004.1992.tb03630.x.
Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)
Affiliations
- PMID: 1633648
- DOI: 10.1111/j.1399-0004.1992.tb03630.x
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Case Reports
Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)
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.
Comment in
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Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25.Clin Genet. 1993 Jul;44(1):53-5. doi: 10.1111/j.1399-0004.1993.tb03845.x. Clin Genet. 1993. PMID: 8403458 No abstract available.
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