Identification of cryptic structural chromosomal aberrations in parents through detection of copy number variations in miscarriage tissues / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 1123-1126, 2019.
Article
de Zh
| WPRIM
| ID: wpr-776731
Bibliothèque responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).@*METHODS@#NGS technique was used to detect CNVs in abortion tissues. Parental chromosomal karyotypes were predicted based on the results. The aberrant chromosomal segments of the parents were accurately mapped by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH).@*RESULTS@#In addition to numerical chromosomal aberrations, 12 microdeletion/microduplications were detected by NGS. For 8 families where both parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities were identified. One marker chromosome was missed by karyotyping analysis, and a mother was confirmed to carry a cryptic balanced translocation by FISH.@*CONCLUSION@#NGS can facilitate detection of cryptic chromosomal translocations in couples with repeated pregnancy failure and is of great value for detecting abnormal CNVs for its high sensitivity.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Parents
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Avortement spontané
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Aberrations des chromosomes
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Hybridation fluorescente in situ
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Variations de nombre de copies de segment d'ADN
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Génétique
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Caryotypage
Type d'étude:
Diagnostic_studies
Limites du sujet:
Female
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Humans
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Pregnancy
langue:
Zh
Texte intégral:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Année:
2019
Type:
Article