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Jinrui Idengaku Zasshi. 1989 Jun;34(2):113-21.

Application of personal computer to an analysis of small de novo chromosomal insertion: a case of de novo 3q2 trisomy with ins(8;3).


To identify the origin of a small inserted segment in a de novo 8p+ chromosome, an originally programmed computerized database for chromosomal aberration syndromes was utilized. The system selected 3q2 trisomy and 10q2 trisomy as candidates. As a result of a careful comparison of several high-resolution banding patterns among chromosomes 3, 10 and the inserted segment, her karyotype was disignated as: 46,XX,-8,+der(8), inv ins(8;3)(p21.1;q26.32q24) de novo. A small segment from 3q24 to 3q26.32 was trisomic, and invertedly inserted into the short arm of chromosome 8. This computerized database was considered to be useful for analyses of the small de novo inserted chromosomal segment.

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