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
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Chromosomes, Human, Pair 8
/
Genetic Testing
/
Chromosome Deletion
/
GATA4 Transcription Factor
/
Genetics
/
Heart Defects, Congenital
/
Karyotyping
Type of study:
Prognostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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