CareLit Fachartikel

Trisomy 20 mosaicism detected prenatally: A case report of phenotypically normal male liveborn

S Heljic, H Maksic, J Dizdarevic, S Uzicanin, I Kalkan · Ultraschall in der Medizin - European Journal of Ultrasound · 2008 · Heft 05

Dokument
1077145
CareLit-ID
Jahr
2008
Publikation
PDF
nein
Metadaten
DOI
ja
zitierfähig

Bibliografische Angaben

Zeitschrift
Ultraschall in der Medizin - European Journal of Ultrasound
Autor:innen
S Heljic, H Maksic, J Dizdarevic, S Uzicanin, I Kalkan
Ausgabe
Heft 05 / 2008
Seiten
–
Erschienen: 2008-05-29 00:00:00
ISSN
0172-4614
DOI
10.1055/s-2008-1080866

Zusammenfassung

Mosaic trisomy through chorionic villus sampling is extraordinarily rare, but it is one of more common mosaic trisomies detected on amniocentesis. Its clinical significance remains uncertain due to rarity of live born cases with inconsistent clinical findings and short postnatal follow-up. There is a clear association between the percentage of trisomic cells detected on amniocentesis and outcome, with only 5% abnormal outcomes when

Schlagworte

Trisomy 20 mosaicism amniocentesis outcome Diagnosis Chromosomes Amniotic Fluid After Blood Congenital Abnormalities Association Counseling Ultraschall in der Medizin - European Journal of Ultrasound