title: Three cases of tetrasomy 9p.
abstract: We report three cases of tetrasomy 9p, two of which were confirmed prenatally. All three had characteristic findings on ultrasound and at birth. We also present a review of the literature, which suggests that a recognizable phenotype for this condition is emerging. Common findings on prenatal ultrasound include intrauterine growth restriction, ventriculomegaly, cleft lip or palate, and renal anomalies. These findings can provide a clue toward the prenatal diagnosis of this condition. There is also a clearly recognizable phenotype at birth. Facial characteristics include hypertelorism, broad nasal bridge/bulbous or beaked nose, cleft lip/palate, ear anomalies, and micrognathia. The exact extent of the isochromosome does not seem to predict severity, but mosaic cases are less severe, or at least have a greater probability of survival.
authors.affiliation: Department of Genetics, Magee-Womens Hospital, Pittsburgh, Pennsylvania 15213, USA.
authors.forename: S
authors.initials: S
authors.lastname: Dhandha
authors.forename: W A
authors.initials: WA
authors.lastname: Hogge
authors.forename: U
authors.initials: U
authors.lastname: Surti
authors.forename: E
authors.initials: E
authors.lastname: McPherson
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000328:Adult; D000649:Amniocentesis; D000782:Aneuploidy; D002899:Chromosomes, Human, Pair 9; D019465:Craniofacial Abnormalities; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D013577:Syndrome; D016216:Ultrasonography, Prenatal