ArticleRevista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo2026
Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history.
Article in Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveTo 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.
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