Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement.
Prenat Diagn
; 25(4): 292-5, 2005 Apr.
Article
en En
| MEDLINE
| ID: mdl-15849779
ABSTRACT
The authors describe a case of a male foetus whose ultrasound at 20 weeks' gestation revealed cystic hygroma, cleft lip and ventricular septal defect. Amniotic fluid cytogenetics using GTG banding showed a 46,XY,der(13)t(3;13)(q12;p11.1) rearrangement, and fluorescence in situ hybridization (FISH) delineated the relevant breakpoints. Familial studies identified a maternal balanced translocation involving chromosomes 3 and 13. The post-mortem examination confirmed the prenatal ultrasound findings.
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Colección:
01-internacional
Asunto principal:
Diagnóstico Prenatal
/
Trisomía
/
Anomalías Múltiples
/
Cromosomas Humanos Par 3
/
Cromosomas Humanos Par 13
/
Reordenamiento Génico
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Año:
2005
Tipo del documento:
Article
País de afiliación:
Portugal