Retrospective diagnosis of trisomy 15 in formalin-fixed, paraffin-embedded placental tissue in a newborn girl with Prader-Willi syndrome
| Autor: | Herbert Enders, Andreas Dufke, Claudia Walczak, Klaus Grissinger |
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| Rok vydání: | 2000 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Placenta Pregnancy High-Risk Aneuploidy Trisomy Biology Andrology Chromosome 15 Pregnancy Formaldehyde Internal medicine medicine Humans Advanced maternal age In Situ Hybridization Fluorescence Genetics (clinical) Retrospective Studies Chromosome Aberrations Chromosomes Human Pair 15 Paraffin Embedding medicine.diagnostic_test Mosaicism Infant Newborn Obstetrics and Gynecology Karyotype medicine.disease Uniparental disomy Endocrinology Karyotyping Amniocentesis Female Prader-Willi Syndrome Maternal Age Microsatellite Repeats Fluorescence in situ hybridization |
| Zdroj: | Prenatal Diagnosis. 20:914-916 |
| ISSN: | 1097-0223 0197-3851 |
| Popis: | Paternal deletion of 15q11-q13 and maternal uniparental disomy (UPD) of chromosome 15 are the main causes of Prader–Willi syndrome (PWS).The finding of an UPD(15) is associated with increased maternal age. We present a retrospective diagnosis of a trisomy 15 mosaicism confined to the placenta (CPM) after birth of a girl with clinical features of PWS born to a 43-year-old mother. Chromosome analysis after amniocentesis, performed because of advanced maternal age, had shown a normal female karyotype. In peripheral blood cells molecular studies showed the absence of the paternal allele at the SNRPN locus and fluorescence in situ hybridization (FISH) analysis excluded a deletion of the SNRPN locus on both chromosomes 15. Trisomic cells were detected by FISH on nuclei isolated from formalin-fixed, paraffin-embedded placental tissue using a DNA-probe specific for the centromeric region of chromosome 15. Copyright © 2000 John Wiley & Sons, Ltd. |
| Databáze: | OpenAIRE |
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