[Down's syndrome caused by robertsonian translocation with cystic hygroma].
An echographic examination in a 33 year old woman at the 12th week of pregnancy revealed a foetus with a cystic hygroma of the neck. The amniocentesis was performed at the 14th week and the karyotype analysis showed a trisomy 21 with a translocation 21q21q.
Abrate
M
M
Gullino
E
E
Zerbino
E
E
Sardi
R
R
D000328:Adult; D000649:Amniocentesis; D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008202:Lymphangioma / Q000175:diagnosis* / Q000473:pathology; D009333:Neck; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic / Q000235:genetics*; D014463:Ultrasonography
S. Down da traslocazione robertsoniana con igroma cistico.