Partial monosomy 4p and trisomy 12q due to a t(4;12)(p16.3;q24.31) familial translocation in two cousins (2019)
- Authors:
- USP affiliated authors: SQUIRE, JEREMY ANDREW - FMRP ; MARTELLI, LUCIA REGINA - FMRP ; GRANGEIRO, CARLOS HENRIQUE PAIVA - FMRP ; GENNARO, FLAVIA GAONA DE OLIVEIRA - FMRP ; GOMES, ALEXANDRA GALVÃO - FMRP
- Unidade: FMRP
- DOI: 10.1159/000501923
- Subjects: GENÔMICA; GENÓTIPOS; FENÓTIPOS; CROMOSSOMOS; HIBRIDIZAÇÃO; MALFORMAÇÕES; DELEÇÃO DE GENES
- Keywords: Chromosomal translocation; Comparative genomic hybridization; Genotype-phenotype association; Partial monosomy 4p16; Partial trisomy 12q; Wolf-Hirschhorn syndrome
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Molecular Syndromology
- ISSN: 1661-8769
- Volume/Número/Paginação/Ano: v. 10, n. 5, p. 264-271, 2019
- Este artigo possui versão em acesso aberto
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- Versão do Documento: Versão publicada (Published version)
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Status: Artigo possui acesso gratuito no site do editor (Bronze Open Access) -
ABNT
JOAQUIM, Tatiana Mozer et al. Partial monosomy 4p and trisomy 12q due to a t(4;12)(p16.3;q24.31) familial translocation in two cousins. Molecular Syndromology, v. 10, n. 5, p. 264-271, 2019Tradução . . Disponível em: https://doi.org/10.1159/000501923. Acesso em: 11 mar. 2026. -
APA
Joaquim, T. M., Grangeiro, C. H. P., Gennaro, F. G. de O., Gomes, A. G., Squire, J. A., & Martelli, L. R. (2019). Partial monosomy 4p and trisomy 12q due to a t(4;12)(p16.3;q24.31) familial translocation in two cousins. Molecular Syndromology, 10( 5), 264-271. doi:10.1159/000501923 -
NLM
Joaquim TM, Grangeiro CHP, Gennaro FG de O, Gomes AG, Squire JA, Martelli LR. Partial monosomy 4p and trisomy 12q due to a t(4;12)(p16.3;q24.31) familial translocation in two cousins [Internet]. Molecular Syndromology. 2019 ; 10( 5): 264-271.[citado 2026 mar. 11 ] Available from: https://doi.org/10.1159/000501923 -
Vancouver
Joaquim TM, Grangeiro CHP, Gennaro FG de O, Gomes AG, Squire JA, Martelli LR. Partial monosomy 4p and trisomy 12q due to a t(4;12)(p16.3;q24.31) familial translocation in two cousins [Internet]. Molecular Syndromology. 2019 ; 10( 5): 264-271.[citado 2026 mar. 11 ] Available from: https://doi.org/10.1159/000501923 - Applications of cytogenomic characterization of chromosomal rearrangements to establish a more precise phenotype-genotype correlation
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- 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
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