Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Eur J Med Genet ; 65(11): 104610, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36100156

RESUMO

Neurodevelopmental disorders are a heterogeneous group of diseases. Clinical presentation often overlaps with neurodevelopmental disorders, and explaining the molecular origin often requires reverse phenotyping. Next-Generation Sequencing (NGS) allows fast and cost-effective high-throughput sequencing. Given this fact, NGS is a useful tool for reverse phenotyping, especially for rare diseases. We hereby present two similarly affected siblings with neurodevelopmental delay. Duo-whole exome sequencing was performed. The homozygous LSM1 variant was found as the most likely cause for the condition. Our report contributes to the literature on the phenotype the biallelic LSM1 mutations. Moreover, we highlight the importance of reverse phenotyping and reanalysis of the genetic data.


Assuntos
Transtornos do Neurodesenvolvimento , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Proteínas Proto-Oncogênicas/genética , Proteínas de Ligação a RNA/genética , Sequenciamento do Exoma
2.
Taiwan J Obstet Gynecol ; 61(1): 122-126, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35181020

RESUMO

OBJECTIVE: Tetrasomy 9p is a rare fetal condition. Cases are usually mosaic. Here, we present a non-mosaic tetrasomy 9p case with cytogenetic analysis, fluorescence in situ hybridization, microarray data, ultrasound findings, and phenotypic presentation. CASE REPORT: A pregnancy was referred to cytogenetic analysis because of increased nuchal translucency in prenatal ultrasound at 13 weeks of gestation. Prenatal laboratory analysis revealed an extra marker chromosome with a non-mosaic pattern. Ultrasonographic findings were unilateral cleft lip and palate, micrognathia, and atrioventricular septal defect at the 17th week; additionally, ventriculomegaly, left axis deviation of the fetal heart, and a single umbilical artery were determined at the 23rd week. CONCLUSION: Phenotypic severity in non-mosaic tetrasomy 9p widely differs depending on the chromosomal content. We recommend performing appropriate genetic tests in those pregnancies with the suspicion of tetrasomy 9p, evaluating the mosaic state, and following those cases with detailed ultrasonographic examinations.


Assuntos
Cromossomos Humanos Par 9/genética , Fenda Labial/diagnóstico por imagem , Fissura Palatina/diagnóstico por imagem , Análise Citogenética/métodos , Diagnóstico Pré-Natal , Adulto , Amniocentese , Aneuploidia , Feminino , Aconselhamento Genético , Humanos , Hibridização in Situ Fluorescente , Análise em Microsséries , Mosaicismo , Medição da Translucência Nucal , Gravidez , Ultrassonografia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...