Cytogenetic and molecular genetic analysis of the amniotic fluid cells of a fetus with pseudodicentric isochromosome 22 resulting in partial tetraploidy of 22q / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 272-275, 2018.
Article
Dans Zh
| WPRIM
| ID: wpr-687961
Responsable en Bibliothèque :
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To diagnose chromosomal abnormalities in amniotic fluid cells by combining karyotyping and single nucleotide polymorphism array (SNP-array) analysis, and to explore the application of SNP-array in routine clinical practice.</p><p><b>METHODS</b>Conventional G banding was used to karyotype a fetal amniotic fluid sample and the corresponding peripheral blood samples from the parents, followed by SNP-array analysis of the fetal genomic DNA from the amniotic fluid.</p><p><b>RESULTS</b>The karyotype of the amniocytes was 47, XX, +mar. The marker chromosome was further identified as psu idic (22) (q11.2) by SNP-array analysis, revealing tetraploidy of a 1.7 Mb fragment in 22q11.1-q11.2 interval that involves the critical region for Cat eye syndrome.</p><p><b>CONCLUSION</b>A rare chromosomal abnormality was identified by combining conventional G banding and SNP-array. The high resolution SNP-array could provide more detailed information for determining the origin of chromosomal abnormalities.</p>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Chromosomes humains de la paire 22
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Malformations oculaires
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Isochromosomes
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Maladies chromosomiques
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Polymorphisme de nucléotide simple
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Biologie cellulaire
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Tétraploïdie
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Génétique
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Liquide amniotique
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Caryotypage
Type d'étude:
Prognostic_studies
Limites du sujet:
Adult
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Female
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Humans
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Pregnancy
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2018
Type:
Article