[Phenotype of trisomy 9].
A male infant with multiple malformations (cleft lip und palate, contractures of joints, aplasias and dysplasias of fingers and toes), antenatal and postnatal dystrophy and severe retardation of psychomotor development as features of trisomy 9 is described. The phenotype of this rare chromosomal aberration is summarized from 20 cases published since 1973.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009958:Orofaciodigital Syndromes / Q000235:genetics; D010641:Phenotype; D012886:Skull / Q000002:abnormalities; D014314:Trisomy
Der Phänotyp der Trisomie 9.