Three cases of tetrasomy 9p.
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.
Dhandha
S
S
Department of Genetics, Magee-Womens Hospital, Pittsburgh, Pennsylvania 15213, USA.
Hogge
W A
WA
Surti
U
U
McPherson
E
E
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