The pathology of XXXX . A study of 12 cases.

@entity1 @entity8 @entity788 @entity245 @entity1757 @entity600 @entity854 @entity10146 @entity65 @entity2008 @entity340 @entity22174 @entity1141
Anatomical and histopathological findings in 12 cases of @entity22174 (nine with classic full trisomy and three with trisomy 13 and an unbalanced Robertsonian 13/13 translocation) are reported. Emphasis is on the brain defects, @entity854 , and histological organ @entity1141 . Eight @entity1 showed @entity245 ( @entity10146 ). @entity65 were invariably present, the leading @entity600 being an infundibular @entity1757 often in combination with dextroposition of the aorta and @entity340 . @entity854 giving evidence of organ @entity1141 were observed in the central nervous system, eyes, pancreas, kidneys, and ovaries. Mild @entity8 was a constant feature. Foci of persistent nodular renal blastema were found in six cases. The @entity788 appears to be pathognomonic for trisomy 13. These observations illustrate the importance of pathological studies in the recognition of @entity2008 and, more specifically, of @entity22174 . Based on autopsy data, trisomy 13 can be diagnosed - or ruled out - with certainty, even in the absence of karyotyping.
