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Clin Genet. 1992 Jan;41(1):51-3.

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

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  • 1División de Genética, Hospital de Pediatría, I.M.S.S., Guadalajara Jalisco, Mexico.

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.

PMID:
1633648
[PubMed - indexed for MEDLINE]
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