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) / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 392-394, 2004.
Article
em Zh
| WPRIM
| ID: wpr-328868
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>In this study the authors used G-banding, C-banding, N-banding, high-resolution banding, phenotype location analysis, and a comparative review of literature.</p><p><b>RESULTS</b>It was found that karyotypes of the patient's parents are normal. The patient's karyotype is 45, XX, -13/46, XX, r(13)/46, XX, r(13;13)/47, XX, 2r(13) (p13q32.3). The typical syndrome of ring-chromosome 13 is related to the deletion of 13q34; the deletion of 13q32-13q32.2 is related to hand and foot abnormality, heart murmur, renal defect, skeletal abnormality and external genital abnormality; the deletion of 13q32.3-13q33 is related to micrognathia; 13q22-13q32 is related to atresia, and 13q13-q22 is related to anencephaly.</p><p><b>CONCLUSION</b>It is confirmed that a new breakage-reunion point of ring-chromosome is located at 13p13 and 13q32.3. The variety of clinical characteristics and phenotypes in patients with ring-chromosome 13 syndrome are closely related to the differences of the deletion of chromosome 13.</p>
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Índice:
WPRIM
Assunto principal:
Fenótipo
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Cromossomos em Anel
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Cromossomos Humanos Par 13
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Literatura de Revisão como Assunto
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Aberrações Cromossômicas
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Bandeamento Cromossômico
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Transtornos Cromossômicos
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Diagnóstico
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Genética
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Cariotipagem
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2004
Tipo de documento:
Article