Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)
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.
Ramírez-Dueñas
M L
ML
División de Genética, Hospital de Pediatría, I.M.S.S., Guadalajara Jalisco, Mexico.
Medina
C
C
Ocampo-Campos
R
R
Rivera
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure*; D002890:Chromosomes, Human, Pair 20 / Q000648:ultrastructure*; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic