Prenatal diagnosis of trisomy 6 mosaicism.
Prenat Diagn
; 25(5): 354-7, 2005 May.
Article
em En
| MEDLINE
| ID: mdl-15906424
ABSTRACT
We report on a fetus with multiple congenital anomalies detected at the prenatal ultrasound examination and a trisomy 6 mosaicism in the amniocytes. The pregnancy was interrupted in the 18th gestational week and the autopsy revealed malformations including cleft right hand, arthrogryposis and hypoplasia of the 4th digit of the left hand, syndactylies and overlapping toes, facial dysmorphism with hypertelorism and low-set ears, ventricular septum defect (VSD), intestinal malrotation and scoliosis. Trisomy 6 mosaicism was detected in cultured amniocytes (13.3%), confirmed in umbilical cord fibroblasts (40%) and by fluorescence in situ hybridization on other fetal tissues. Trisomy 6 mosaicism is a very rare finding with only eight cases previously reported to our best knowledge.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Trissomia
/
Cromossomos Humanos Par 6
/
Mosaicismo
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Bélgica