The phenotypic and cytogenetic spectrum of partial trisomy 9.
A new patient with trisomy for the chromosome segment 9pter----q22 is compared to 19 previously reported cases of partial trisomy 9. Manifestations such as microcephaly, prominent nasal root, bulbous nose, and down-turned corners of the mouth are common to patients with trisomic segments extending from 9p21 to 9q13, while intra-uterine growth retardation, cleft lip/palate, skeletal anomalies, and heart defects are more common with trisomic segments extending through 9q22-9q32. A graphic method illustrates this progression in the partial trisomy 9 malformation spectrum as the triplicated chromosome region extends from bands 9p21 to 9q32. More severe and random defects are observed with complete trisomy 9 or tetrasomy 9p, suggesting an extreme excess of material greatly increases developmental variability.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010641:Phenotype; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014314:Trisomy