Identification of human small supernumerary marker chromosomes and discussion of its research value / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 91-94, 2013.
Artículo
en Chino
| WPRIM
| ID: wpr-232197
ABSTRACT
<p><b>OBJECTIVE</b>To identify the origin of human small supernumerary marker chromosomes (sSMCs) using fluorescent in situ hybridization (FISH) combined with G-banding karyotype analysis, and to discuss their mechanisms of formation and research value.</p><p><b>METHODS</b>Cep-FISH and SubcenM-FISH were used to analyze sSMCs in 3 patients for whom the result of G-banding was 47,XN,+mar.</p><p><b>RESULTS</b>The FISH result of case 1 was 47,XY,+mar.ish inv dup(22)(q11.1)(D22Z4++,D14/22Z1+, RP11-172D7-). The marker has formed exclusively by heterochromatin. A boy was delivered later with no apparent clinical abnormalities. The FISH result of case 2 was 47,XX,+mar.ish r(10)(p11.2q11.2) (cep10+, RP11-232C13+, RP11-178A10+)[25]/46,XX[10]. The marker has formed by heterochromatin and nearby centromere. A girl was delivered later with no clinical abnormalities. The FISH result of case 3 was 47,XY,+mar.ish inv dup(22)(q11.1)(D22Z4+,D14/22Z1+). The marker has also formed exclusively by euchromatin. Fetal abnormalities were detected by type B ultrasonography, but were not necessarily related with the marker.</p><p><b>CONCLUSION</b>The diversity of sSMCs has posed a great challenge for prenatal diagnosis. Identification of sSMCs will require combined karyotype analysis and FISH or other molecular techniques such as microarray based comparative genomic hybridization or sequencing. For its specific structure, the sSMCs may also provide a valuable tool for gene mapping, heterochromatin research and gene therapy.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Marcadores Genéticos
/
Aberraciones Cromosómicas
/
Bandeo Cromosómico
/
Clasificación
/
Hibridación Fluorescente in Situ
/
Cariotipificación
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2013
Tipo del documento:
Artículo
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