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Congenital Malformations in Autosomal Trisomy Syndromes

Am J Dis Child. 1966;112(6):502-517. doi:10.1001/archpedi.1966.02090150046002.
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IT HAS BEEN known since 1959 that certain chromosomal aberrations are associated with syndromes of congenital malformations; thus explanations have been found for many malformations which were previously enigmatic. It is understandable that in the resulting literature chromosome findings and cytogenetic details were stressed, while teratologic effects were often not sufficiently emphasized. It seems worthwhile and timely to relate the results of autosomal trisomy studies to classifications of pathology and teratology of the various organ systems.

It will be of value to describe for the benefit of clinical specialists the varieties of malformations produced by certain chromosomal aberrations. The cardiologist will be interested to see tables comparing the effects upon the heart of trisomy 13-15 (D1), and trisomy 18 with those of trisomy 21, and to learn of their relative frequency and variability. The same may be true for the neurologist, ophthalmologist, orthopedic, pediatric and plastic surgeon, urologist, and others.


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