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.
Artículo
en Chino
| WPRIM
| ID: wpr-328868
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>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Cromosomas en Anillo
/
Cromosomas Humanos Par 13
/
Literatura de Revisión como Asunto
/
Aberraciones Cromosómicas
/
Bandeo Cromosómico
/
Trastornos de los Cromosomas
/
Diagnóstico
/
Genética
/
Cariotipificación
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2004
Tipo del documento:
Artículo
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