A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9.
A girl with 46, XX, del (11) (q23), inv (9) (p13, q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13, q13)).
D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D010641:Phenotype