Prenatally detected six duplications at Xp22.33-p11.22: a case report.
BMC Pregnancy Childbirth
; 23(1): 294, 2023 Apr 27.
Article
em En
| MEDLINE
| ID: mdl-37106349
ABSTRACT
BACKGROUND:
The discrepancy between the results of cytogenetics and the results of chromosome microarray analysis (CMA) has often led to confusion over genetic counselling for prenatal diagnosis. CASE PRESENTATION The prenatal ultrasound results of a congenital heart defect (CHD) foetus displayed an apartial endocardial pad defect and permanently dilated coronary sinus and left superior vena cava at 21 weeks of gestation. Cytogenetic analysis, CMA, fluorescent in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) with foetal cord blood samples were used to detect the genetic aetiology. Routine G-binding cytogenetic analysis showed normal karyotypes in both the foetus' and parents' blood samples. CMA results demonstrated that there were 53.973-Mb recurrent CNVs at Xp22.33-p11.22, as confirmed by MLPA assay.CONCLUSIONS:
Herein, we described the CNV of six duplications at Xp22.33-p11.22 and the 53.973 Mb duplication CNV that was not found in foetal cord blood samples by conventional cytogenetic methods, and it was confirmed by CMA and MLPA. Our novel findings will provide helpful information for prenatal diagnosis and genetic counselling for foetal CHDs.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Veia Cava Superior
/
Seio Coronário
/
Variações do Número de Cópias de DNA
/
Cardiopatias Congênitas
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
Idioma:
En
Revista:
BMC Pregnancy Childbirth
Assunto da revista:
OBSTETRICIA
Ano de publicação:
2023
Tipo de documento:
Article