CareLit Fachartikel
Report of unbalanced chromosomal aberration with translocation (3;6) and partial trisomie 3 as well as partial monosomie 6
L Mavrova-Risteska, A Reitter, F Louwen · Geburtshilfe und Frauenheilkunde · 2008 · Heft 09
Dokument
1041853
CareLit-ID
Jahr
2008
Publikation
PDF
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Metadaten
DOI
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zitierfähig
Bibliografische Angaben
Zusammenfassung
Introduction: Translocations occur approximately 1 in 500 newborns. Individuals who carry balanced translocations produce in 50% unbalanced gametes. In the reported case the resulting phenotype almost always includes developmental delay and congenital anomalies. Case presentation: The 32-years-old pregnant female, gravida 3, para 1, was referred to our prenatal clinic at the gestational age of 14 weeks for chorionic villous biopsy. The previous obstetric history included an uneventful first pregnancy and healthy child. In her second pregnancy the fetus was diagnosed with hydrocephalus at gestation of 20 weeks. I…
Schlagworte
chromosomal aberration
translocation
ultrasound
Chorionic Villi Sampling
Chorionic Villi
Diagnosis
Biopsy
Lead
After
Geburtshilfe und Frauenheilkunde
