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Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination

✍ Scribed by P. Eydoux; C. Junien; S. Despoisse; J. Chassevent; C. Bibring; C. Gregori

Publisher: Springer
Year: 1981
Tongue: English
Weight: 428 KB
Volume: 57
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00282010

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✦ Synopsis

A new born male and a three-year-old female with various dysmorphic features were both found to have to have a supernumerary chromosome. Clinical and cytogenetic findings confirmed the existence of a pure de novo 9p tetrasomy in the first case and a pure de novo 9p trisomy in the second case. Gene dosage effects were demonstrated for galactose-1-phosphate uridyltransferase GALT (EC 2.7.7.12) using an improved method for the assay of this enzyme in red blood cells. These findings are in agreement with previous results on similar cases and therefore confirm the assignment of the locus for GALT to 9p.

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✍ P. Steinbach; R. Benz 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 220 KB

After prenatal detection of a de novo unbalanced translocation 46,XX,18p+, fetal fibroblasts were obtained for further studies. Chromosome banding suggested that the fetus might have trisomy of the short arm of chromosome 9. This tentative diagnosis could be confirmed by demonstration of gene dosage