Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history.

OBJECTIVE: To evaluate the effects of an unbalanced inheritance in a patient, while investigating and elucidating family history. CASE DESCRIPTION: This is a case report of a patient carrying an unbalanced combination consisting of a partial trisomy of 1q42.1 and a microdeletion in 8q24.3, resulting from the segregation of the familial balanced reciprocal translocation between chromosomes 1 and 8. COMMENTS: A genetic investigation was carried out in the family, elucidating the segregation mechanisms, possible outcomes, and inheritance lineage of this balanced translocation and its unbalanced forms. This case report was the first involving these two specific chromosomal regions.