title: Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry.
abstract: A child with impaired intelligence, minor dysmorphisms, obesity and genital hypoplasia was found to have an apparently balanced translocation, 46,XY,t(4;14)(q12;q13), following cytogenetic analysis. The same rearrangement was also detected in the child's father, who had similar phenotypic abnormalities to his son. Detailed study of flow karyotypes produced from lymphoblastoid cell lines established that in both patients the translocation was in fact unbalanced with approximately 11 million base pairs of DNA (corresponding to about 6.0% of chromosome 4 or 11.0% of chromosome 14) being lost.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.
authors.forename: A
authors.initials: A
authors.lastname: Cooke
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: J M
authors.initials: JM
authors.lastname: Colgan
authors.forename: C M
authors.initials: CM
authors.lastname: Greig
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14 / Q000648:ultrastructure*; D002894:Chromosomes, Human, Pair 4 / Q000648:ultrastructure*; D003456:Cryptorchidism / Q000235:genetics; D005434:Flow Cytometry; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010413:Penis / Q000002:abnormalities; D010857:Pigment Epithelium of Eye / Q000002:abnormalities; D014178:Translocation, Genetic