Partial trisomy 9 : clinical and cytogenetic correlations
- PMID: 399166
Partial trisomy 9 : clinical and cytogenetic correlations
Abstract
A study of three new cases with different trisomies involving chromosome 9 and a review of about 100 cases of partial trisomy 9 reported in the literature, suggested some cytogenetical and clinical correlations and lead us to propose the nomenclature of Rethore's syndrome type 1 and type 2.
Similar articles
-
[9p trisomy syndrome. Two new cases (author's transl)].An Esp Pediatr. 1981 May;14(5):344-51. An Esp Pediatr. 1981. PMID: 7294523 Spanish.
-
The phenotypic and cytogenetic spectrum of partial trisomy 9.Am J Med Genet. 1985 Feb;20(2):277-82. doi: 10.1002/ajmg.1320200211. Am J Med Genet. 1985. PMID: 3976721
-
The trisomy 4p syndrome: case report and review.Am J Med Genet. 1977;1(2):137-56. doi: 10.1002/ajmg.1320010202. Am J Med Genet. 1977. PMID: 416713
-
Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.Ann Genet. 2004 Jul-Sep;47(3):241-9. doi: 10.1016/j.anngen.2004.02.003. Ann Genet. 2004. PMID: 15337469 Review.
-
Cytogenetic and molecular analysis in trisomy 12p.Am J Med Genet. 1996 May 3;63(1):250-6. doi: 10.1002/(SICI)1096-8628(19960503)63:1<250::AID-AJMG43>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8723118 Review.
Cited by
-
Duplication 9p due to unequal sister chromatid exchange.J Med Genet. 1987 May;24(5):303-5. doi: 10.1136/jmg.24.5.303. J Med Genet. 1987. PMID: 3585946 Free PMC article.
-
De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation.J Pediatr Genet. 2020 Mar;9(1):69-75. doi: 10.1055/s-0039-1696970. Epub 2019 Sep 16. J Pediatr Genet. 2020. PMID: 31976149 Free PMC article.
-
De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH.Mol Cytogenet. 2008 Dec 23;1:27. doi: 10.1186/1755-8166-1-27. Mol Cytogenet. 2008. PMID: 19105807 Free PMC article.
-
Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female.Cytogenet Genome Res. 2009;126(3):305-12. doi: 10.1159/000251966. Epub 2010 Jan 6. Cytogenet Genome Res. 2009. PMID: 20068300 Free PMC article.
-
Tetrasomy 9p confirmed by GALT.J Med Genet. 1983 Oct;20(5):396-9. doi: 10.1136/jmg.20.5.396. J Med Genet. 1983. PMID: 6644773 Free PMC article.