Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease
| Autor: | G. Lowther, J. I. Vaughan, G. E. Moore, M. L. Whiteford, L. Al-Roomi, John Tolmie, A. Mather, J. Coutts, A. Cooke |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Adult
Heart Defects Congenital Pathology medicine.medical_specialty Aneuploidy Chorionic villus sampling Trisomy Biology Chromosome 16 Pregnancy medicine Humans Abnormalities Multiple Genetics (clinical) Chromosome Aberrations Fetal Growth Retardation medicine.diagnostic_test Mosaicism Obstetrics and Gynecology Trisomy 16 Karyotype DNA medicine.disease Uniparental disomy Uniparental Isodisomy Scoliosis Female Chromosomes Human Pair 16 |
| Zdroj: | Prenatal diagnosis. 15(6) |
| ISSN: | 0197-3851 |
| Popis: | We report a growth-retarded infant with congenital heart disease and maternal isodisomy for chromosome 16. Non-mosaic trisomy 16 was detected at mid-trimester chorionic villus sampling, performed because biochemical screening indicated an increased Down's syndrome risk. Further karyotyping analysis of the placenta, after delivery, showed a 50 per cent mosaic trisomy 16. The infant had an atrioventricular (A-V) canal defect, scoliosis, and several minor dysmorphic features. Although uniparental disomy for chromosome 16 has been reported previously, to our knowledge this is the first case of uniparental isodisomy for chromosome 16 which has been investigated with multiple DNA probes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text