title: De novo duplication of 7pter-->p21.2 and deletion of 9pter-->p23.5: clinical and cytogenetic diagnosis.
abstract: We report on a male patient with a de novo derivative chromosome 9. From clinical and conventional cytogenetic data, it was assumed that the derivative chromosome might be caused by a translocation between the short arms of chromosomes 7 and 9: der(9)t(7;9)(p21.2;p23.5). Fluorescence in situ hybridization with a chromosome 7-specific and a chromosome 9-specific paint confirmed this supposition. The phenotype of the patient described is compared to cases in the literature.
authors.affiliation: Institut für Humangenetik und Anthropologie der Universität, Freiburg, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Back
authors.forename: C
authors.initials: C
authors.lastname: Jung
authors.forename: S
authors.initials: S
authors.lastname: Zeitler
authors.forename: W
authors.initials: W
authors.lastname: Schempp
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7; D002899:Chromosomes, Human, Pair 9; D004487:Edema / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011596:Psychomotor Disorders / Q000235:genetics; D014463:Ultrasonography