Genetic analysis of a fetus with partial 1q monosomy and partial 17q trisomy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 340-343, 2016.
Article
Dans Chinois
| WPRIM
| ID: wpr-247677
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype.</p><p><b>METHODS</b>G-banding analysis, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed for the fetus. Karyotyping and FISH were also carried out for the parents.</p><p><b>RESULTS</b>SNP array detected a 4.4 Mb deletion at 1q44 and a 10.4 Mb duplication at 17q24.3q25.3 in the fetus. Based on the results of SNP array and FISH analysis, the father was diagnosed with a cryptic t(1;17)(q44;q24.3) translocation. The fetus has inherited a der(1)t(1;17)(q44;q24.3) from its father.</p><p><b>CONCLUSION</b>The 1q44 deletion and 17q24.3q25.3 duplication may have contributed to the abnormal sonographic features presented by the fetus.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Translocation génétique
/
Trisomie
/
Chromosomes humains de la paire 1
/
Chromosomes humains de la paire 17
/
Échographie prénatale
/
Délétion de segment de chromosome
/
Hybridation fluorescente in situ
/
Polymorphisme de nucléotide simple
/
Génétique
Type d'étude:
Etude diagnostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2016
Type:
Article
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