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Article

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

Clinical genetics - 1 Jan 1992

Ramírez-Dueñas M L, Medina C, Ocampo-Campos R, Rivera H

Abstract excerpt

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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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 17

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Source

Identifiers

PMID: 1633648
DOI: 10.1111/j.1399-0004.1992.tb03630.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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