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August 1974

Trisomy for the Distal Segment of Chromosome 13: A New Syndrome

Author Affiliations

From the Department of Psychiatry (Dr. Escobar); and the Medical Genetics Division, Department of Laboratory Medicine and Pathology (Drs. Sanchez and Yunis), University of Minnesota, Medical School, Minneapolis.

Am J Dis Child. 1974;128(2):217-220. doi:10.1001/archpedi.1974.02110270091019

Chromosome analysis with the Giemsa banding technique was performed in a child who had multiple congenital anomalies. A duplication of the distal one third of the long arm of chromosome 13 was found. This was traced to a pericentric inversion of a chromosome 13 and crossing-over within the meiotic inversion loop in the mother. A review of previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 suggests the existence of a clinical entity distinct from the full trisomy.