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[Chromosome analysis and phenotype location analysis on a patient with the karyotype of 45, XX, -13/46, XX, r(13)/46, XX, r(13;13)/47, XX, 2r(13)(p13q32.3)].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2004

Liang De-sheng, Wu Ling-qian, Long Zhi-gao, Pan Qian, Dai He-ping, Xia Jia-hui

Abstract excerpt

OBJECTIVE: This study was conducted on a patient with ring-chromosome 13 syndrome and the results were presented and comparatively analyzed with reference to the related literature so as to detect the correlation between chromosome 13 band and the phenotype. METHODS: In this study the authors used G-banding, C-banding, N-banding, high-resolution banding, phenotype location analysis, and a comparative review of...

Topics

Chromosome Aberrations
Chromosome Banding
Chromosome Disorders
Chromosomes, Human, Pair 13
Humans
Infant
Karyotyping
Male
Phenotype
Review Literature as Topic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ring Chromosomes

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PMID: 15300643

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[Chromosome analysis and phenotype location analysis on a patient with the karyotype of 45, XX, -13/46, XX, r(13)/46, XX, r(13;13)/47, XX, 2r(13)(p13q32.3)].PMID 15300643Read ↗

[Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case].Semantic proximity Read ↗

Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.Semantic proximity Read ↗

Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature.Semantic proximity Read ↗

Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches.Semantic proximity Read ↗

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Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.Semantic proximity Read ↗

Molecular and Cytogenetic Evaluation of a Patient with Ring Chromosome 13 and Discordant ResultsSemantic proximity Read ↗

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