Pitfalls in prenatal diagnosis: cytogenetic analysis in amniocytes fails to detect mosaic r(12)

Citations Over TimeTop 19% of 2003 papers

Abstract

The chance of missing such a supernumerary ring mosaicism is very low (about 2% in our case). Given its very rare occurrence and the low chance of it being missed if the existing Dutch guidelines are followed, adapting the number of cells or colonies to be examined for all prenatal diagnoses does not appear to be justified.

Related Papers

• → Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies(2010)97 cited
• → Supernumerary marker chromosomes 5: Confirmation of a critical region and resultant phenotype(2002)25 cited
• → Multiple supernumerary ring chromosomes of different origin in a patient: A clinical report and review of the literature(2003)12 cited
• → Clinical findings in a patient mosaic for a supernumerary ring chromosome 20(2000)9 cited
• A boy with small supernumerary marker chromosome X identified by FISH.(2007)