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Literature DB >> 3181206

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

F Calvieri¹, C Tozzi, C Benincori, M V De Merulis, A Bellussi, M Genuardi, G Neri.

Abstract

We report on an infant with partial tetrasomy of chromosome 9 due to the presence in her peripheral lymphocytes and in 55% of skin fibroblasts of an isochromosome 9 comprised of the p arm and of a portion of the q arm extending to band q21.1. The phenotype is comparable to that of other cases with a similar chromosome aberration, with multiple joint dislocations as a prominent manifestation.

Entities: Disease Species

Mesh：

Year: 1988 PMID： 3181206 DOI： 10.1007/bf00442483

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

15 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 high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.

Authors: Hela Bellil; Bérenice Herve; Elodie Herzog; Jean-Marc Ayoubi; François Vialard; Marine Poulain
Journal: J Assist Reprod Genet Date: 2020-01-24 Impact factor: 3.412

2 in total

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

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. Tetrasomy 9p caused by idic (9) (pter----q13----pter).

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

4. [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

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

6. Partial tetrasomy 9 in a liveborn infant.

7. [A patient with Marfan's syndrome and a 9p tetrasomy].

8. Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

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

10. Tetrasomy 9p confirmed by GALT.

1. Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.

2. A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.