Ullrich-Turner syndrome in mother and daughter: Prenatal diagnosis of a 46, X, del(X)(p21) offspring from a 45, X mother with low-level mosaicism for the del(X)(p21) in one ovary

1991 ◽  
Vol 39 (4) ◽  
pp. 411-412 ◽  
Author(s):  
M. Varela ◽  
E. Shapira ◽  
D. B. Hyman
Keyword(s):  
Prenatal Diagnosis ◽  
Turner Syndrome ◽  
Low Level ◽  
Mother And Daughter

scholarly journals Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Na Ma ◽  
Hui Xi ◽  
Jing Chen ◽  
Ying Peng ◽  
Zhengjun Jia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Snp Array ◽  
Genomic Rearrangements ◽  
Chromosomal Mosaicism ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Low Level ◽  
Autosomal Aneuploidy ◽  
Number Variation

Abstract Background Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared with CMA is warranted. Methods A total of 72 mosaicism cases identified by karyotyping or CMA were recruited to the study. There were 67 mosaic samples co-analysed by CMA and CNV-seq, comprising 40 with sex chromosome aneuploidy, 22 with autosomal aneuploidy and 5 with large cryptic genomic rearrangements. Results Of the 67 positive mosaic cases, the levels of mosaicism defined by CNV-seq ranged from 6 to 92% compared to the ratio from 3 to 90% by karyotyping and 20% to 72% by CMA. CNV-seq not only identified all 43 chromosomal aneuploidies or large cryptic genomic rearrangements detected by CMA, but also provided a 34.88% (15/43) increased yield compared with CMA. The improved yield of mosaicism detection by CNV-seq was largely due to the ability to detect low level mosaicism below 20%. Conclusion In the context of prenatal diagnosis, CNV-seq identified additional and clinically significant mosaicism with enhanced resolution and increased sensitivity. This study provides strong evidence for applying CNV-seq as an alternative to CMA for detection of aneuploidy and mosaic variants.

scholarly journals Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome

2017 ◽  
Vol 56 (6) ◽  
pp. 840-842 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Shin-Wen Chen ◽  
Shih-Ting Lai ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 13 ◽  
Favorable Outcome ◽  
Low Level

scholarly journals Prenatal diagnosis of low-level mosaicism for trisomy 2 associated with a favorable pregnancy outcome

2016 ◽  
Vol 55 (2) ◽  
pp. 303-304 ◽  
Author(s):  
Chih-Ping Chen ◽  
Tsang-Ming Ko ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Yen-Ni Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnancy Outcome ◽  
Low Level

Prenatal Diagnosis and Management of Monozygotic Twins Discordant for Turner Syndrome

2013 ◽  
Vol 36 (3) ◽  
pp. 255-258 ◽  
Author(s):  
Chenyu Gou ◽  
Yu Gao ◽  
Baojiang Chen ◽  
Qun Fang
Keyword(s):  
Prenatal Diagnosis ◽  
Turner Syndrome ◽  
Monozygotic Twins ◽  
Diagnosis And Management

scholarly journals Prenatal diagnosis of low-level mosaic trisomy 20 by amniocentesis in a pregnancy with a favorable outcome

2020 ◽  
Vol 59 (2) ◽  
pp. 327-330 ◽  
Author(s):  
Chih-Ping Chen ◽  
Yu-Ling Kuo ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Shin-Wen Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Favorable Outcome ◽  
Low Level ◽  
Mosaic Trisomy
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