Karyotype-phenotype Correlations in Structural Chromosome Abnomalities

A study was performed on the phenotype-karyotype correlations in 5p^-, partial 9 trisomy, partial 13 trisomy syndromes, and structural X chromosome anomalies. 1) 5p^- syndrome : Deletion of the band p 15.2 is pathognomonic of the 5p^- syndrome, especially of cri du chat. 2) Partial trisomy 9 : Trisomies for 9p, 9q2, and distal 9q are all associated with a distinct combination of clinical features. The simian line and the absence or fusion of palmar triradii b and c are found in 9p trisomy, but not in 9q2 or distal 9q trisomy. Congenital heart disease and urogenital abnomalities are characteristic of 9q2 trisomy. Dislication of the hip and knee joints is associated with distal 9q trisomy.