Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies
| Autor: | U. Koenig, M. B. Petersen, Pascale Cochaux, N. Van Regemorter, J. Flament‐Durand, Winnie Courtens, Franki Speleman, M. R. Verschraegen-Spae, Jean Christophe Noël, D. Delneste, N. Van Roy, E Vamos |
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| Rok vydání: | 1994 |
| Předmět: |
medicine.medical_specialty
Monosomy Chromosomes Human Pair 21 Aneuploidy Chromosomal translocation Gene mutation Biology Translocation Genetic Fatal Outcome medicine Humans Abnormalities Multiple Urinary Tract Genetics (clinical) In Situ Hybridization Fluorescence medicine.diagnostic_test Cytogenetics Infant Newborn Karyotype Genitalia Female medicine.disease Molecular biology Chromosome Banding Chromosomes Human Pair 1 Karyotyping Female Agenesis of Corpus Callosum Chromosome Deletion Chromosome 21 Fluorescence in situ hybridization |
| Zdroj: | American journal of medical genetics. 51(3) |
| ISSN: | 0148-7299 |
| Popis: | Foetal blood sampling was performed at 35 weeks of gestation due to abnormal foetal ultrasound findings. There was apparent monosomy 21 (45,XX,-21) in all mitoses analyzed. The infant died at 37 weeks during delivery. Examination disclosed facial anomalies, clubfeet, hypoplasia of the left urogenital tract, agenesis of corpus callosum, ventricular dilatation, and heterotopias. Reevaluation of the karyotype showed an unbalanced translocation t(1;21) (q44;q22.11) which resulted from a maternal balanced translocation. These findings were confirmed by fluorescence in situ hybridization and molecular studies with chromosome 21 specific markers. The latter showed a proximal deletion of the maternally derived chromosome 21 including all loci from centromere down to the D21S210 locus. This case illustrates the need for complementary cytogenetic and molecular investigations in cases of apparent monosomy 21. |
| Databáze: | OpenAIRE |
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