17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.
Cytogenet Genome Res
; 144(3): 178-82, 2014.
Article
en En
| MEDLINE
| ID: mdl-25402493
ABSTRACT
Ultrasound examination performed on a 36-year-old woman at 33 weeks of gestation showed the presence of isolated and bilateral ventriculomegaly in the fetus. Array-based comparative genomic hybridization (array-CGH) performed on uncultured amniocytes at 35 weeks of gestation revealed a 17q21.31 microdeletion. After genetic counseling, the pregnancy was terminated at 37 weeks of gestation. At autopsy, the fetus displayed facial dysmorphic features and triventricular ventriculomegaly. To our knowledge, this is the first case of a 17q21.31 microdeletion detected prenatally. Our report suggests that array-CGH should be performed when severe ventriculomegaly is observed in prenatal ultrasound examination.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
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Deleción Cromosómica
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Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
Cytogenet Genome Res
Asunto de la revista:
GENETICA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Francia