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Literature DB >> 511173

Trisomy 9p resulting from de novo 9/15 translocation and a 9p isochromosome.

Abstract

Trisomy 9p with de novo 9/15 translocation and 9p isochromosome was observed in a mentally defective boy with typical clinical features for this syndrome. This chromosomal aberration is probably caused by the pericentric inversion of chromosome 9 of the patient's father.

Entities: Disease Species

Mesh：

Year: 1979 PMID： 511173 DOI： 10.1007/bf00271570

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

10 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. A case of trisomy for the short arm of chromosome no. 9(+9(p)).

Authors: M E Käosaar; A V Mikelsaar; T A Talvik; R V Mikelsaar
Journal: Hum Genet Date: 1976-09-10 Impact factor: 4.132

Review 3. Genetics of the +p9 syndrome.

Authors: I W Lurie; G I Lazjuk; D B Gurevich; S S Usoev
Journal: Hum Genet Date: 1976-04-15 Impact factor: 4.132

4. [Giemsa-R-banding analysis of the trisomy 9p and report of a new case].

Authors: M O Rethoré; H Hoehn; H D Rott; J Couturier; B Dutrillaux; J Lejeune
Journal: Humangenetik Date: 1973-04-16

5. [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

6. [Familial Cc-F translocation determining a trisomy for the short arm of chromosome 12].

Authors: J Lejeuen; R Berger; M O Réthoré; C Salmon; M Kaplan
Journal: Ann Genet Date: 1966

7. Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation.

Authors: H Hoehn; W Engel; H Reinwein
Journal: Humangenetik Date: 1971

8. Trisomy 9p with an isochromosome of 9p.

Authors: G Smith; A McCaa; T E Kelly
Journal: Hum Genet Date: 1978-05-16 Impact factor: 4.132

9. 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

10. Structural variability of human chromosome 9 in relation to its evolution.

Authors: I Hansmann
Journal: Hum Genet Date: 1976-03-12 Impact factor: 4.132

10 in total

11 in total

Review 1. Centric fission--simple and complex mechanisms.

Authors: Jo Perry; Howard R Slater; K H Andy Choo
Journal: Chromosome Res Date: 2004 Impact factor: 5.239

2. A possible new type of chromosome rearrangement: telomere-centromere translocation (tct) followed by double duplication.

Authors: A Aurias; B Dutrillaux
Journal: Hum Genet Date: 1986-01 Impact factor: 4.132

Trisomy 9p resulting from de novo 9/15 translocation and a 9p isochromosome.

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. A case of trisomy for the short arm of chromosome no. 9(+9(p)).

Review 3. Genetics of the +p9 syndrome.

4. [Giemsa-R-banding analysis of the trisomy 9p and report of a new case].

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

6. [Familial Cc-F translocation determining a trisomy for the short arm of chromosome 12].

7. Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation.

8. Trisomy 9p with an isochromosome of 9p.

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

10. Structural variability of human chromosome 9 in relation to its evolution.

Review 1. Centric fission--simple and complex mechanisms.

2. A possible new type of chromosome rearrangement: telomere-centromere translocation (tct) followed by double duplication.

3. Morphology alone does not make an isochromosome.

4. Familial reciprocal translocation t(9;13)(p11;p12) investigated by silver staining and in situ hybridisation.

5. A female with XO/XY mosaicism and partial trisomy 9p.

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

Review 7. Pericentric inversions. Problems and significance for clinical genetics.

Review 8. Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

9. Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.

10. Partial Trisomy 9p(p22→pter) from a Maternal Translocation 4q35 and 9p22.