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invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.
Mergener, Rafaella; Nunes, Marcela Rodrigues; Böttcher, Ana Kalise; Siqueira, Monique Banik; Peruzzo, Helena Froener; Merola, Milene Carvalho; Riegel, Mariluce; Zen, Paulo Ricardo Gazzola.
Afiliación
  • Mergener R; Post-Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil.
  • Nunes MR; Post-Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil.
  • Böttcher AK; Medical Genetics Resident, Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre 90020-090, RS, Brazil.
  • Siqueira MB; Undergraduate Program in Biomedical Science, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil.
  • Peruzzo HF; Undergraduate Program in Biomedical Sciences, Universidade do Vale do Rio dos Sinos (UNISINOS), São Leopoldo 93022-750, RS, Brazil.
  • Merola MC; Undergraduate Program in Biomedical Science, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil.
  • Riegel M; Undergraduate Program in Biomedical Science, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil.
  • Zen PRG; Casa dos Raros, Center for Comprehensive Care and Training in Rare Diseases, Porto Alegre 90610-261, RS, Brazil.
Genes (Basel) ; 15(7)2024 Jul 12.
Article en En | MEDLINE | ID: mdl-39062689
ABSTRACT
Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.21)] of 17.18 Mb, showing different clinical manifestations microcephaly, dorsal hypertrichosis, seizures and neuropsychomotor development delay in the child, and a cleft lip/palate, down-slanted palpebral fissures and learning disabilities in the mother. The deleterious outcome, in general, is reflected by the gain or loss of genetic material. However, discrepancies among the clinical manifestations raise some concerns about the genomic configuration within the chromosome and other genetic modifiers. With that in mind, we also performed a literature review of research published in the last 20 years about the duplication of the same, or close, chromosome region, seeking the elucidation of at least some relevant clinical features.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 8 Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genes (Basel) Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 8 Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genes (Basel) Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Suiza