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

doi:10.1111/j.1399-0004.1992.tb03630.x

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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 im...

Topics

Abnormalities, Multiple
Adult
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 20
Dwarfism
Female
Fetal Growth Retardation
Humans
Infant, Newborn
Phenotype
Syndrome
Translocation, Genetic

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