Research from Genzyme Genetics provides new data on cell biology
2007 MAR 5 -- A new study, "Supernumerary marker chromosomes detected in 100,000 prenatal diagnoses: molecular cytogenetic studies and clinical significance," is now available. In this recently published article, scientists in the United States conducted a study "To evaluate the clinical significance of the supernumerary marker chromosomes (SMCs) detected during prenatal diagnosis. We retrospectively studied cytogenetic/fluorescence in situ hybridization (FISH) results and clinical evaluation of 110 marker cases identified from approximately 100,000 cases referred for prenatal diagnosis." "The clinical follow-up performed was focused on cases with de novo markers not derived from chromosome 15. Among the 110 SMCs, 79 (71.8%) were de novo, 24 (21.8%) were familial, and the origin was undetermined in 7 cases. Fifty-eight of the SMCs originated from nonacrocentric chromosomes and 52 SMCs were derived from acrocentric chromosomes, with 27 originating from chromosome 15. Twenty-two of the SMCs from chromosome 15 did not contain the Prader-Willi/Angelman syndrome critical region, and uniparental disomy was ruled out in 19/19 cases. Clinical information ranging from birth to 4 years was obtained for 46 de novo cases with nonchromosome-15-derived SMCs. Of these cases, 11/11 acrocentric SMCs resulted in normal phenotype. In contrast, 4/23 cases with single nonacrocentric SMCs and 3/5 cases with two or more SMCs resulted in an abnormal phenotype. Our data suggests an overall low risk for acrocentric SMCs and a higher risk for nonacrocentric SMCs," wrote B. Huang and colleagues, Genzyme Genetics. The researchers concluded: "Phenotypes associated with markers derived from some specific chromosomes are also discussed." Huang and colleagues published their study in Prenatal Diagnosis (Supernumerary marker chromosomes detected in 100,000 prenatal diagnoses: molecular cytogenetic studies and clinical significance. Prenatal Diagnosis, 2006;26(12):1142-50). For more information, contact B. Huang, Genzyme Genetics, Orange, CA 92868 USA. Publisher contact information for the journal Prenatal Diagnosis is: John Wiley & Sons Ltd., the Atrium, Southern Gate, Chichester PO19 8SQ, W Sussex, England. Keywords: United States, Orange, Biotechnology Business, Biotechnology Company, Cell Biology, Genetics, Genzyme Corporation. This article was prepared by Biotech Business Week editors from staff and other reports. Copyright 2007, Biotech Business Week via NewsRx.com.
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