Cryptic translocation involving two acrocentric chromosome ends revealed by fluorescence in situ hybridization after two consecutive pregnancies of which the results of chromosome microarray were mirror-imaged

Fetal 13q34 microdeletion may present with fetal ventricular septal defect on prenatal ultrasound. Fetal 13q34 microduplication with subsequent fetal 13q34 microdeletion is rare. Our case underscores the importance of the parental karyotype, parental array CGH, combined with FISH study to clarify this issue.

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Publication Details

Journal
Taiwanese Journal of Obstetrics and Gynecology
Published
2025-01-01
DOI
https://doi.org/10.1016/j.tjog.2024.03.028
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
0.00

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article

Cryptic translocation involving two acrocentric chromosome ends revealed by fluorescence in situ hybridization after two consecutive pregnancies of which the results of chromosome microarray were mirror-imaged

C. F. Lee, Chi-Yuan Chiang, Ming Chen, Yao-Lung Chang et al.
Taiwanese Journal of Obstetrics and Gynecology
Genomic variations and chromosomal abnormalities
article

Cryptic translocation involving two acrocentric chromosome ends revealed by fluorescence in situ hybridization after two consecutive pregnancies of which the results of chromosome microarray were mirror-imaged

C. F. Lee, Chi-Yuan Chiang, Ming Chen, Yao-Lung Chang, Haoming Cheng, Yu-Ting Lin, Ho‐Yen Chueh, Shuenn‐Dyh Chang, Hsiu‐Huei Peng
article en

Abstract

Fetal 13q34 microdeletion may present with fetal ventricular septal defect on prenatal ultrasound. Fetal 13q34 microduplication with subsequent fetal 13q34 microdeletion is rare. Our case underscores the importance of the parental karyotype, parental array CGH, combined with FISH study to clarify this issue.

Taiwanese Journal of Obstetrics and GynecologyVol. 64(1)
Chang Gung University (TW), Chang Gung Memorial Hospital (TW), Taoyuan Chang Gung Memorial Hospital (TW), Changhua Christian Hospital (TW)
Chang Gung Memorial Hospital, Chang Gung Memorial Hospital, Linkou
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Openalex Percentile: Top 100%
Genomic variations and chromosomal abnormalities
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Cryptic translocation involving two acrocentric chromosome ends revealed by fluorescence in situ hybridization after two consecutive pregnancies of which the results of chromosome microarray were mirror-imaged — C. F. Lee, Chi-Yuan Chiang, et al. · Taiwanese Journal of Obstetrics and Gynecology (2025) | TGRS Research Map | TGRS