Morphology and pathogenesis of 47, XYY/47, XY, +mar identified in patients with super male syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 378-380, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-239465
ABSTRACT
<p><b>OBJECTIVE</b>To explore the source and morphology of supernumerary markers from patients with 47,XYY/47,XY, +mar and supermale syndrome.</p><p><b>METHODS</b>Conventional GTG banded karyotyping and dual-color fluorescence in situ hybridization (FISH) were performed on 21 such patients.</p><p><b>RESULTS</b>Among these cases, 18 had their small supernumerary marker derived from the Y chromosome. Three were derived from autosomal chromosomes. Those derived from Y chromosome were small fragments with centromeres, while those derived from autosomes were in the ring form.</p><p><b>CONCLUSION</b>In children with supermale syndrome and 47,XYY/47,XY,+ mar, the supernumerary marker chromosomes primarily derive from sex chromosomes. These small chromosomes mainly have the forms of small segments with centromeres or rings. For such children, molecular cytogenetic analysis can facilitate genetic counseling and prenatal diagnosis.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cariótipo XYY
/
Aberrações Cromossômicas
/
Bandeamento Cromossômico
/
Hibridização in Situ Fluorescente
/
Transtornos dos Cromossomos Sexuais
/
Genética
Tipo de estudo:
Estudo de etiologia
Limite:
Adolescente
/
Criança
/
Criança, pré-escolar
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo
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