Genetic analysis of a child with XYY syndrome mainly featuring mental retardation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 686-689, 2016.
Article
Dans Chinois
| WPRIM
| ID: wpr-345379
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic cause for a boy featuring mainly with mental retardation.</p><p><b>METHODS</b>G-banding karyotyping and fluorescence in situ hybridization (FISH) were carried out for the child and his parents. The child was also analyzed with chromosome microarray (CMA). Suspected microdeletion was validated with quantitative PCR.</p><p><b>RESULTS</b>The proband was found to have a 47,XYY karyotype by both chromosome and FISH analyses, while both of his parents had a normal karyotype. CMA suggested that the proband had one copy of X chromosome and two copies of Y chromosome. In addition, CMA has also detected deletion of the KYNU gene (mapped at 2q22.2), which could be pathogenic. The result was confirmed by qPCR.</p><p><b>CONCLUSION</b>For its high resolution, CMA can be used to identify potential microdeletion/duplications among children with chromosome aneuploidy and unusual phenotypes.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Caryotype XYY
/
Zébrage chromosomique
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Hybridation fluorescente in situ
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Séquençage par oligonucléotides en batterie
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Polymorphisme de nucléotide simple
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Maladies liées aux chromosomes sexuels
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Diagnostic
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Génétique
/
Caryotypage
/
Déficience intellectuelle
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Adulte
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2016
Type:
Article
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