Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype.
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.
Schaefer
G B
GB
Department of Pediatrics, Oklahoma University Health Sciences Center, Oklahoma City.
Domek
D B
DB
Morgan
M A
MA
Muneer
R S
RS
Johnson
S F
SF
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
D006570:Heterochromatin