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Literature DB >> 7401135

Tetrasomy 9p: confirmation by enzyme analysis.

S J Moedjono, B F Crandall, R S Sparkes.

Abstract

A 4-day-old Caucasian male presented with midline defects of the skull and face and extensive skeletal malformations. Chromosome analysis of peripheral blood lymphocytes showed tetrasomy 9p (47,XY, + i(9p) with no evidence of mosaicism. Confirmation of the cytogenetic interpretation was obtained from the assay of the enzyme galactose-1-P uridyl transferase, the locus for which is on 9p, which showed twice the normal activity.

Entities: Disease

Mesh：

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Year: 1980 PMID： 7401135 PMCID： PMC1048553 DOI： 10.1136/jmg.17.3.227

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

7 in total

1. 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 defect.

Authors: E Orye; H Verhaaren; H Van Egmond; A Devloo-Blancquaert
Journal: Clin Genet Date: 1975-02 Impact factor: 4.438

2. [Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations (author's transl)].

Authors: D Ghymers; B Hermann; C Distèche; J Frederic
Journal: Humangenetik Date: 1973-12-10

3. Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome.

Authors: T Abe; M Morita; K Kawai; S Misawa; T Takino; H Hashimoto; Y Nakagome
Journal: Ann Genet Date: 1977-06

4. Partial tetrasomy 9 in a liveborn infant.

Authors: L Wisniewski; G D Politis; J V Higgins
Journal: Clin Genet Date: 1978-09 Impact factor: 4.438

5. A presumptive tetrasomy for the short arm of chromosome 9.

Authors: F J Rutten; J M Scheres; T W Hustinx; B G ter Haar
Journal: Humangenetik Date: 1974

6. Improved technique for electrophoresis of human galactose-1-p uridyl transferase (EC 2.7.7.12).

Authors: M C Sparkes; M Crist; R S Sparkes
Journal: Hum Genet Date: 1977-12-29 Impact factor: 4.132

7. Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes.

Authors: E Beutler; M C Baluda
Journal: Clin Chim Acta Date: 1966-03 Impact factor: 3.786

7 in total

6 in total

Tetrasomy 9p: confirmation by enzyme analysis.

1. 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 defect.

2. [Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations (author's transl)].

3. Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome.

4. Partial tetrasomy 9 in a liveborn infant.

5. A presumptive tetrasomy for the short arm of chromosome 9.

6. Improved technique for electrophoresis of human galactose-1-p uridyl transferase (EC 2.7.7.12).

7. Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes.

1. Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations.

2. Mosaic hexasomy 21.

3. Duplication of the short arm of chromosome 9. Analysis of five cases.

4. Mosaic tetrasomy 21 in severe mental handicap.

5. Tetrasomy 9p confirmed by GALT.

6. Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.