Partial trisomy 13q21→qter de novo due to a recombinant chromosome rec(13)dup q
作者： M. Habedank
DOI: 10.1007/BF00284602
关键词:
摘要: A female is described who has a karyotype with an additional distal half of 13q in recombinant rec(13)dup q chromosome. Since her parents have normal karyotypes, the origin assumed to be premeiotic pericentric inversion de novo crossing-over within loop at meiosis. By means various banding techniques, breaks preceding rearrangement could located exactly. The joint between duplicated segment and satellites receptor chromosome special note. phenotype patient stated age 9 months 71/2 years was found related segments involved partial trisomy. clinical features were largely accordance previous case reports having identical extent triplicated segment.
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