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Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 44-47, 2020.
Article Dans Chinois | WPRIM | ID: wpr-781297
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a family affected with congenital heart defects.@*METHODS@#G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus.@*RESULTS@#G-banding karyotyping showed the patient was 45,XY,rob(15;21)(q10;q10)[36]/46,XY[64], while the fetus had an normal karyotype. CMA revealed that both had arr[hg19]8p23.1(11 232 919-11 935 465)×1. MLPA showed both had deletion of all exons of the GATA4 gene.@*CONCLUSION@#The LVNC of the patient and the ventricular septal defect(VSD) of his fetus may result from the same 8p23.1 deletion, for which GATA4 is probably the key gene.
Sujets)
Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Chromosomes humains de la paire 8 / Dépistage génétique / Délétion de segment de chromosome / Facteur de transcription GATA-4 / Génétique / Cardiopathies congénitales / Caryotypage Type d'étude: Étude pronostique Limites du sujet: Humains langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2020 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Chromosomes humains de la paire 8 / Dépistage génétique / Délétion de segment de chromosome / Facteur de transcription GATA-4 / Génétique / Cardiopathies congénitales / Caryotypage Type d'étude: Étude pronostique Limites du sujet: Humains langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2020 Type: Article