Severe Silver‐Russell syndrome and translocation (17;20) (q25;q13)
- 1 January 1992
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 41 (1), 51-53
- https://doi.org/10.1111/j.1399-0004.1992.tb03630.x
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.Keywords
This publication has 7 references indexed in Scilit:
- Phenotypic and genetic analysis of the Silver-Russell syndromeClinical Genetics, 2008
- Monozygotic twins discordant for the Russell‐Silver syndromeAmerican Journal of Medical Genetics, 1990
- Three‐generation dominant transmission of the Silver‐Russell syndromeAmerican Journal of Medical Genetics, 1990
- Severe Silver-Russell syndrome.Journal of Medical Genetics, 1989
- Russell-Silver syndrome.Journal of Medical Genetics, 1988
- X‐linked short stature with skin pigmentation: evidence for heterogeneity of the Russell‐Silver syndromeClinical Genetics, 1986