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Demonstration of gene dosage effects for AK3and GALT in fibroblasts from a fetus with 9p trisomy

โœ Scribed by P. Steinbach; R. Benz

Publisher
Springer
Year
1983
Tongue
English
Weight
220 KB
Volume
63
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

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 effects for galactose-1-phosphate uridyl transferase (GALT, EC 2.7.7.12) and nucleoside triphosphate adenylate kinase (AK3, EC 2.7.4.10) both known to be controlled by genes assigned to 9p. These findings demonstrate for the first time a gene dosage effect for AK3 in a case of 9p trisomy and show again that gene mapping information can be used to define partial aneuploidies in fetal fibroblasts.

๐Ÿ“œ SIMILAR VOLUMES

Gene dosage effect for GALT in 9p trisom
Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination
โœ P. Eydoux; C. Junien; S. Despoisse; J. Chassevent; C. Bibring; C. Gregori ๐Ÿ“‚ Article ๐Ÿ“… 1981 ๐Ÿ› Springer ๐ŸŒ English โš– 428 KB

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 d

Triplex gene dosage effect of TPI and G3
Triplex gene dosage effect of TPI and G3PD in a human lymphoblastoid cell line with partial trisomy 12p13 and 18p
โœ C. Junien; J. C. Kaplan; F. Serville; G. Lenoir ๐Ÿ“‚ Article ๐Ÿ“… 1979 ๐Ÿ› Springer ๐ŸŒ English โš– 132 KB

The EBV-induced lymphoblastoid line established from a patient carrying a duplication of the distal part of chromosome 12 short arm (12p13) retained the original partial trisomy and displayed the same triplex gene dosage effect for TPI and G3PD as found in the patient's RBC and WBC.