title: Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype.
abstract: A fetus with multiple malformations was identified by prenatal ultrasound investigation. Cordocentesis and fetal lymphocyte chromosome analysis demonstrated a model number of 47 chromosomes. The extra chromosome material was identified as an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm [47,XY, + i(9p)]. This represents the first report of prenatal diagnosis of tetrasomy 9p. Further delineation of the phenotype is discussed.
authors.affiliation: Department of Pediatrics, Oklahoma University Health Sciences Center, Oklahoma City.
authors.forename: G B
authors.initials: GB
authors.lastname: Schaefer
authors.forename: D B
authors.initials: DB
authors.lastname: Domek
authors.forename: M A
authors.initials: MA
authors.lastname: Morgan
authors.forename: R S
authors.initials: RS
authors.lastname: Muneer
authors.forename: S F
authors.initials: SF
authors.lastname: Johnson
mesh_terms: D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000000981:diagnostic imaging; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9 / Q000648:ultrastructure*; D006570:Heterochromatin / Q000648:ultrastructure; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011180:Postmortem Changes; D011296:Prenatal Diagnosis; D014463:Ultrasonography
chemical_list: D006570:Heterochromatin