Pediatric Medical Genetics - S.I. Smiian 2003

Chromosomal Diseases
Trisomy-D Syndrome

Trisomy D syndrome (Chromosomes 13–15, Patau syndrome) is characterized by multiple severe developmental defects: congenital Heart disease, profound mental retardation, seizures, deafness, anophthalmia or microphthalmia, cleft lip and palate, polydactyly, joint hypermobility, an enlarged Gallbladder, common Bile duct stenosis, and incomplete Rotation of the colon. Some patients also exhibit Hydronephrosis, umbilical hernia, Muscle hypertonia, and seizure attacks.

In trisomy D, an extra group D chromosome or a D/D and D/E translocation is identified. Affected children typically die within the first 3 months of life.



Last update: 11/08/2026

Editorial and Educational Adaptation: This material has been compiled based on the primary/original source text. The project team performed an editorial review, corrected technical inaccuracies, structured sections, and adapted the content for an educational format.

What was processed:

  • elimination of formatting defects (OCR errors, structural breaks, corrupted characters);
  • editorial organization of content;
  • standardization of terminology in accordance with academic sources;
  • verification of factual statements against the original source text.

All mentions of the author, publication year, and origin of the primary text have been preserved in accordance with the source.