Severe Silver-Russell syndrome and translocation (17;20) (q25;q13).
作者信息
Ramírez-Dueñas M L, Medina C, Ocampo-Campos R, Rivera H
机构信息
División de Genética, Hospital de Pediatría, I.M.S.S., Guadalajara Jalisco, Mexico.
出版信息
Clin Genet. 1992 Jan;41(1):51-3. doi: 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.
摘要
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