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Article

Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.

Clinical genetics - 1 Oct 1992

Stengel-Rutkowski S, Lohse K, Herzog C, Apacik C, Couturier J, Albert A, Belohradsky B

Abstract excerpt

Partial trisomy 8qter-->q23 or q24.1 has been reported in 15 literature cases. We add two further case reports here. Patient 1 inherited the derivative (2) of a balanced maternal reciprocal translocation t(2;8)(qter;q2300) after 2:2 disjunction and adjacent-1 segregation, and is trisomic for the segment 8qter-->q2300. Patient 2 inherited a recombinant (8) of a balanced maternal inverted insertion inv...

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Identifiers

PMID: 1424241
DOI: 10.1111/j.1399-0004.1992.tb03234.x

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