Segregation of two independent chromosomal translocations in one family |
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Authors: | K. Miller Sibylle D. Flatz |
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Affiliation: | (1) Abteilung Humangenetik, Medizinische Hochschule Hannover, Postfach 61 01 80, D-3000 Hannover 61, Federal Republic of Germany |
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Abstract: | Summary A family with two independent reciprocal translocations t(3;19) and t(16;22) is described. The proband, a 4-week-old male, was phenotypically conspicious with multiple congenital anomalies. Cytogenetic examination revealed a balanced reciprocal translocation (3;19) and a supernumerary small marker chromosome. His mother carried two balanced reciprocal translocations, the one found in the proband and a reciprocal translocation (16;22). The maternal grandmother and a maternal uncle were identified as carriers of a single translocation (16;22). The findings in the family members permitted the identification of the proband's marker chromosome as a derivative chromosome 22 resulting in partial trisomy 16 and 22. |
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