Prenatal diagnosis of low-level mosaicism for a small XIST-negative supernumerary ring X chromosome in a nondysmorphic male fetus

2006 ◽  
Vol 26 (4) ◽  
pp. 387-391 ◽  
Author(s):  
Chih-Ping Chen ◽  
Shuan-Pei Lin ◽  
Chyi-Chyang Lin ◽  
Yueh-Chun Li ◽  
Lie-Jiau Hsieh ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
X Chromosome ◽  
Male Fetus ◽  
Low Level

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 Differential DNA Methylation as a Tool for Noninvasive Prenatal Diagnosis (NIPD) of X Chromosome Aneuploidies

2010 ◽  
Vol 12 (6) ◽  
pp. 797-807 ◽  
Author(s):  
Floriana Della Ragione ◽  
Paola Mastrovito ◽  
Ciro Campanile ◽  
Anna Conti ◽  
Elisavet A. Papageorgiou ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Prenatal Diagnosis ◽  
X Chromosome ◽  
Noninvasive Prenatal Diagnosis

Recombinant X chromosome in a prenatal diagnosis

2006 ◽  
Vol 112 (3-4) ◽  
pp. 337-340 ◽  
Author(s):  
C. Orellana ◽  
L. Badía ◽  
F. Martínez ◽  
J.S. Oltra ◽  
S. Monfort ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
X Chromosome

scholarly journals Prenatal Diagnosis of Osteopathia Striata with Cranial Sclerosis in a Male Fetus with a ~330kb Deletion of Xq11.1 Involving the WTX Gene

2013 ◽  
Vol 1 (1) ◽  
pp. 33-36 ◽  
Author(s):  
Patrick L. Wilson ◽  
Ashley Davis ◽  
Jean Ricci Goodman ◽  
Lauren Notley ◽  
Shibo Li ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Male Fetus ◽  
Osteopathia Striata ◽  
Cranial Sclerosis

Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion

1987 ◽  
Vol 75 (3) ◽  
pp. 286-290 ◽  
Author(s):  
S. V. Hodgson ◽  
M. E. Robertson ◽  
C. N. Fear ◽  
J. Goodship ◽  
S. Malcolm ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Prenatal Diagnosis ◽  
X Chromosome ◽  
Chromosome Deletion
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