3q27.3-q29 duplication and 2q37.2-q37.3 deletion rare in a female child with developmental delay and hypotonia in Manaus, Brazil

Introduction Cytogenomic analyses play a fundamental role in the detection of genetic disorders patients with developmental delay, and are an excellent diagnostic method. Objective Report case female child delay hypotonia relate existence copy-number variations to understand their contribution appearance phenotype. Methods This is report. Anamnesis, 10 months age at first appointment. Mother reported uneventful pregnancy obstructed cesarean delivery neonatal jaundice. She only non-consanguineous, common characteristics hypotonia. Physical examination, patient presented hypotonia, loose skin, hyperextensible joints, micrognathia, ankyloglossia, umbilical hernia, camptodactyly involuntary convulsive seizures. analysis, SNP Array. Results array revealed duplication 3q27.3.3q29 deletion 2q37.2.2q37.3, both considered pathogenic. Conclusion Among pathogenic variants, already known duplications syndromes were observed, as well changes that not described literature. The altered regions contain genes sensitive dosage and/or gene haploinsufficiency, contributed phenotype patient. proved be paramount elucidation patient, made it possible therapeutic management counseling.