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.
Escobar JI, Sanchez O, Yunis JJ. Trisomy for the Distal Segment of Chromosome 13: A New Syndrome. Am J Dis Child. 1974;128(2):217–220. doi:10.1001/archpedi.1974.02110270091019
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