title: Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.
abstract: A case of maternal uniparental disomy of chromosome 13 is described. The subject is a phenotypically normal male who inherited a t(13;13)(p11.2;p11.2) from his mother who is a carrier of this translocation. The mother was ascertained through a history of recurrent abortion and is phenotypically normal. The translocation in both subjects was studied by cytogenetic and DNA analysis and appears to be a true dicentric isochromosome. These findings show that maternal uniparental disomy of chromosome 13 has had no pathological consequences and suggests that there is no imprinting of genes on maternally derived chromosome 13.
authors: Murdoch Institute, Royal Childrens' Hospital, Parkville, Melbourne, Victoria 3052, Australia.
authors: H
authors: H
authors: Slater
authors: J H
authors: JH
authors: Shaw
authors: G
authors: G
authors: Dawson
authors: A
authors: A
authors: Bankier
authors: S M
authors: SM
authors: Forrest
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure*; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D014178:Translocation, Genetic