De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.
Birth Defects Res A Clin Mol Teratol
; 100(6): 507-11, 2014 Jun.
Article
em En
| MEDLINE
| ID: mdl-24753315
ABSTRACT
BACKGROUND:
Interstitial 2q36 deletion is a rare event. Only two previously published cases of 2q36 deletions were characterized using array-CGH. This is the first case diagnosed prenatally.METHODS:
We report on the prenatal diagnosis of a 2q36.1q36.3 interstitial deletion in a fetus with facial dysmorphism, spina bifida, and cleft palate.RESULTS:
Array-CGH analysis revealed a 5.6 Mb interstitial deletion of the long arm of chromosome 2q36.1q36.3, including the PAX3 and EPHA4 genes.CONCLUSION:
The present study reinforces the hypothesis that PAX3 haploinsufficiency may be associated with neural tube defects in humans and suggests that the EPHA4 gene might be implicated during palate development. This report also illustrates the added value of array-CGH to detect cryptic chromosomal imbalances in malformed fetuses and to improve genetic counseling prenatally.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Cromossomos Humanos Par 2
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Disrafismo Espinal
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Deleção Cromossômica
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Fissura Palatina
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Receptor EphA4
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Fatores de Transcrição Box Pareados
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
Birth Defects Res A Clin Mol Teratol
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
França