Genetic diagnosis and analysis for two cases of ring chromosome 22 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 494-497, 2016.
Article
Dans Chinois
| WPRIM
| ID: wpr-247650
ABSTRACT
<p><b>OBJECTIVE</b>To confirm the genetic diagnosis of two patients with ring chromosome 22 syndrome and investigate the mechanism underlying the formation of r(22) and potential genetic causes for the clinical phenotypes.</p><p><b>METHODS</b>Cytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and single nucleotide polymorphism array (SNP array) were performed.</p><p><b>RESULTS</b>For case 1, the karyotype was 46,XY,r(22)(p11q13). SNP array has identified a 7.0 Mb heterozygous deletion at 22q13.2q13.33. For case 2, the karyotype was 46,XY,r(22)(p11q13)[84]/45,XY,-22[6]; SNP array has detected a heterozygous microdeletion of 1.6 Mb at 22q13.33.</p><p><b>CONCLUSION</b>With combined application of genetic testing, 2 cases of r(22) syndrome were diagnosed, which has improved the understanding of the genotype-phenotype correlation of r(22).</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Chromosomes en anneau
/
Chromosomes humains de la paire 22
/
Dépistage génétique
/
Zébrage chromosomique
/
Séquençage par oligonucléotides en batterie
/
Polymorphisme de nucléotide simple
/
Génétique
/
Protéines de tissu nerveux
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Enfant d'âge préscolaire
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2016
Type:
Article
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