Partial trisomy 9--further delineation of the phenotype.
A patient with partial trisomy 9 (47,XX,+9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable knees. The phenotypic findings are compared with those of other documented cases of total trisomy 9.
Smart
R D
RD
Department of Human Genetics, Medical School, University of Cape Town, South Africa.
Viljoen
D L
DL
Fraser
B
B
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D014314:Trisomy