Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome (2017)
- Authors:
- USP affiliated authors: SQUIRE, JEREMY ANDREW - FMRP ; MARTELLI, LUCIA REGINA - FMRP
- Unidade: FMRP
- DOI: 10.1159/000452681
- Subjects: HIBRIDIZAÇÃO; DELEÇÃO DE GENES; DOENÇAS GENÉTICAS; CROMOSSOMOS HUMANOS
- Keywords: Comparative genomic hybridization; Deletion 11q; FLI1; Jacobsen syndrome; Ring chromosome; Thrombocytopenia Paris-Trousseau type
- Language: Inglês
- Imprenta:
- Source:
- Título: Molecular Syndromology
- ISSN: 1661-8769
- Volume/Número/Paginação/Ano: v. 8, n. 1, p. 45-49, 2017
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
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ABNT
GOMES, Alexandra Galvão et al. Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome. Molecular Syndromology, v. 8, n. 1, p. 45-49, 2017Tradução . . Disponível em: https://doi.org/10.1159/000452681. Acesso em: 13 fev. 2026. -
APA
Gomes, A. G., Grangeiro, C. H. P., Silva, L. R., Oliveira-Gennaro, F. G., Pereira, C. S., Joaquim, T. M., et al. (2017). Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome. Molecular Syndromology, 8( 1), 45-49. doi:10.1159/000452681 -
NLM
Gomes A G, Grangeiro C H P, Silva LR, Oliveira-Gennaro FG, Pereira CS, Joaquim TM, Panepucci RA, Squire JA, Martelli LR. Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome [Internet]. Molecular Syndromology. 2017 ; 8( 1): 45-49.[citado 2026 fev. 13 ] Available from: https://doi.org/10.1159/000452681 -
Vancouver
Gomes A G, Grangeiro C H P, Silva LR, Oliveira-Gennaro FG, Pereira CS, Joaquim TM, Panepucci RA, Squire JA, Martelli LR. Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome [Internet]. Molecular Syndromology. 2017 ; 8( 1): 45-49.[citado 2026 fev. 13 ] Available from: https://doi.org/10.1159/000452681 - Applications of cytogenomic characterization of chromosomal rearrangements to establish a more precise phenotype-genotype correlation
- Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder
- Analysis of complex duplication-deletion (8p) rearrangement: clinical, cytogenetic and array comparative genomic characterization
- High resolution array-CGH analysis apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes
- Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder
- Genotype-phenotype correlation of an 8p complex rearrangement
- High resolution mapping of 12p in a patient with a mild phenotype of Pallister-Killian syndrome indicates duplication by interstitial gain of 12p11.21-p13.31
- Genotype-phenotype correlation associated with inherited homozygous paracentric inversion of chromosome 12
- High resolution array-CGH analysis of apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes
- Phenotype-genotype correlative characterization a case of Jacobsen Syndrome without thrombocytopenia associated with a ring chromosome 11
Informações sobre o DOI: 10.1159/000452681 (Fonte: oaDOI API)
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