[Morphological manifestations and principles of the differential diagnosis of chromosome diseases caused by changes in the autosome system].
On the basis of analysis of pathologoanatomic findings on 1533 children with various chromosome diseases and on the author's own 80 observations, the main morphological manifestations of the 12 chromosome syndromes (syndromes 8+, 13+, 18+, 21+, 4p-, 5p-, +(p9), 13q -, 18p-, 18q-, 21- and triplodia) are set forth. It was shown that 1.9% of the children perished during the perinatal period had chromosomal diseases including Patau's syndrome (1:101), Down's syndrome (1:154) and Edwards' syndrome (1:463).
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D004314:Down Syndrome / Q000175:diagnosis; D006801:Humans; D012886:Skull / Q000002:abnormalities; D014314:Trisomy
O morlogicheskikh proiavleniiakh i printsipakh differentsialńogo diagnoza khromosomnykh bolezneĭ, obuslovlennykh izmeneniiami v sisteme autosom