Prenatal diagnosis of a case of tetrasomy 9p
- 21 November 1989
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 9 (11) , 809-811
- https://doi.org/10.1002/pd.1970091110
Abstract
A male fetus with tetrasomy 9p [47,XY, + i(9p)] is presented. The cytogenetic interpretation of the marker chromosome was confirmed by assessing the activity of the enzyme galactose I‐phosphate uridyl transferase. The clinical findings of the case show features in common with previously reported cases.Keywords
This publication has 7 references indexed in Scilit:
- Tetrasomy 9p caused by idic (9) (pter→q13→pter)American Journal of Medical Genetics, 1987
- Duplication of the short arm of chromosome 9. Analysis of five casesHuman Genetics, 1982
- Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determinationHuman Genetics, 1981
- Tetrasomy 9p: confirmation by enzyme analysis.Journal of Medical Genetics, 1980
- Assay of galactose-1-phosphate uridyl transferase in cultured amniotic cells for prenatal diagnosis of galactosaemiaClinica Chimica Acta; International Journal of Clinical Chemistry, 1975
- A new case of the trisomy 9p syndrome: Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p)) and a peculiar congenital heart defectClinical Genetics, 1975
- A presumptive tetrasomy for the short arm of chromosome 9Human Genetics, 1974