Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis
| Autor: | L. M. Smit, N. J. Leschot, E. J. Wilmsen-Linders, J. F. Samsom, H.P. van Geijn |
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| Přispěvatelé: | Other departments |
| Rok vydání: | 1988 |
| Předmět: |
Adult
Physiology Prenatal diagnosis Trisomy Biology Urine Pregnancy Genetics medicine Urine sediment Humans Genetics (clinical) Chromosomes Human Pair 12 medicine.diagnostic_test Mosaicism Infant Newborn Karyotype medicine.disease Chromosome Banding Cord blood Karyotyping Skin biopsy Amniocentesis Fourth pregnancy Female |
| Zdroj: | Clinical genetics, 34(2), 135-139. Wiley-Blackwell |
| ISSN: | 0009-9163 |
| Popis: | A newborn is described in whom trisomy 12 mosaicism was detected prenatally at third trimester amniocentesis during the fourth pregnancy of a 34-year-old woman. After birth, trisomy 12 cells were found in placental tissue and in cultured urine sediment cells. A sample of cord blood and a skin biopsy revealed only normal (46,XX) cells. Both parents had a normal karyotype. After a difficult start with unexplained hypoglycaemias and convulsion equivalents, the girl is doing well at the age of 9 months: there are no signs of central motor disturbance. The importance of the use of cultured urine sediment cells in confirming chromosomal mosaicism is stressed. |
| Databáze: | OpenAIRE |
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