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Duplication/deficiency product of a pericentric inversion in man: A cause of D1 trisomy syndrome

1973; Elsevier BV; Volume: 82; Issue: 2 Linguagem: Inglês

10.1016/s0022-3476(73)80164-7

1097-6833

Kutay Taysi, Martin Bobrow, S Balci, K. Madan, M Atasu, Burhan Say,

Genomics and Chromatin Dynamics

An abnormal submetacentric chromosome, identified as a pericentric inversion of a No.1 3, has been found in several clinically normal members of a family. The proposita, who had features suggestive of D1 trisomy (Patau's) syndrome, carried a morphologically different abnormal chromosome. Quinacrine fluorescence and Giemsa banding techniques showed this to be a duplication/deficiency derivative of the abnormal parental No. 13, presumably due to meiotic crossing over within the inversion loop. An abnormal submetacentric chromosome, identified as a pericentric inversion of a No.1 3, has been found in several clinically normal members of a family. The proposita, who had features suggestive of D1 trisomy (Patau's) syndrome, carried a morphologically different abnormal chromosome. Quinacrine fluorescence and Giemsa banding techniques showed this to be a duplication/deficiency derivative of the abnormal parental No. 13, presumably due to meiotic crossing over within the inversion loop.