A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, +  i (9p) and a peculiar congenital heart defect.
A girl is described for whom an unusual chromosome constitution was found and who had a peculiar congenital heart defect. The girl showed the main clinical features of the trisomy 9p syndrome, such as psychomotor retardation, microcephaly and brachycephaly, enophthalmos, antimongoloid eye slant, hypertelorism, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases. In addition, the girl had an incomplete harelip, a cleft palate and a peculiar congenital heart defect, a ventricular septal defect with pulmonary valve stenosis and a marked hypoplasia of the pulmonary trunk, including the bifurcation. Chromosome analysis revealed a mosaicism with normal and abnormal mitoses (47 chromosomes). The extra chromosome was a metacentric E16-like chromosome, which on the basis of the G, R, Q and Giemsa-11-banding could be identified as an isochromosome of the short arm of chromosome 9 (46,XX/47,XX, +i (9) (pter leads to cen leads to pter)). The patient consequently had a partial tetrasomy of the short arm of chromosome 9.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002906:Chromosomes, Human, 6-12 and X; D002972:Cleft Palate / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008046:Lip / Q000002:abnormalities; D009030:Mosaicism; D010375:Pedigree; D014314:Trisomy