Genetic counseling of a prenatally detected familial 18.79-kb Xp21.1 microduplication encompassing exon 13 of DMD in a pregnancy with no apparent phenotypic abnormalities in the ma... by Chih-Ping Chen, Shuan-Pei Lin, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang

“…She was referred for genetic counseling at 24 weeks of gestation, and continuing pregnancy was advised. At 38 weeks of gestation, a 3530-g phenotypically normal male baby was delivered. aCGH analysis of the umbilical cord confirmed the result of arr Xp21.1 (32,608,400–32,627,193) × 2.0 [GRCh37 (hg19)] encompassing only exon 13 of the gene of DMD (31,137,345–33,357,706) [GRCh37 (hg19)]. …”
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45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outco... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang

“…Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes using SurePrint G3 Unrestricted CGH ISCA v2, 8 × 60K (Agilent Technologies, Santa Clara, CA, USA) revealed arr (1–22, X) × 2, Y × 0 with no genomic imbalance. The woman was advised to continue pregnancy, and at 38 weeks of gestation, a healthy 3140-g female baby was delivered with no phenotypic abnormalities. …”
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Low-level mosaic trisomy 20 without uniparental disomy 20 at amniocentesis in a pregnancy associated with a favorable outcome, cytogenetic discrepancy between uncultured amniocytes... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Schu-Rern Chern, Peih-Shan Wu, Chen-Chi Lee, Wayseen Wang

“…Quantitative fluorescent polymerase chain reaction (QF-PCR) assays on the DNAs extracted from uncultured amniocytes and parental bloods excluded UPD 20. The woman was advised to continue the pregnancy, and a healthy 3750-g phenotypically normal male baby was delivered at 38 weeks of gestation. …”
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Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive dec... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Wen Pan, Wayseen Wang

“…Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed 43.8% (35/80 cells) mosaicism for trisomy 21. The woman was advised to continue the pregnancy, and a phenotypically normal 3,340-g male baby was delivered at 39 weeks of gestation. …”
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Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line a... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wen-Lin Chen, Chen-Chi Lee, Wayseen Wang

“…At repeat amniocentesis, quantitative fluorescent polymerase chain reaction (QF-PCR) analysis using the DNA extracted from uncultured amniocytes and parental bloods excluded uniparental disomy (UPD) 21, array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed the result of arr 21q11.2q22.3 × 2.4, consistent with 40% mosaicism for trisomy 21, and fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed 67% (67/100 cells) mosaicism for trisomy 21. The woman was advised to continue the pregnancy, and a 1370-g male baby was delivered prematurely at 29 weeks of gestation without phenotypic abnormalities. …”
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Mosaicism for a 15q11.2 microduplication with a normal euploid cell line at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the aneuploid cell... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang

“…Prenatal ultrasound findings were unremarkable. She was advised to continue the pregnancy, and a 3865-g phenotypically normal male baby was delivered. aCGH analysis on the DNA extracted from cord blood at birth and buccal mucosal cells at age four months revealed arr (1–22) × 2, X × 1, Y × 1 and detected no genomic imbalance in all samples. …”
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Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal progressive decrease of th... by Chih-Ping Chen, Te-Yao Hsu, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang

“…Fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed 30% (30/100 cells) mosaicism for trisomy 21. The woman was advised to continue the pregnancy, and a phenotypically normal 2800-g female baby was delivered at 38 weeks of gestation. …”
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Mosaicism for Robertsonian jumping translocation at amniocentesis: 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, genetic counseling, prenatal diagnosis and postnatal follow-... by Chih-Ping Chen, Jenn-Jhy Tseng, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Schu-Rern Chern, Chen-Chi Lee, Wayseen Wang

“…Fluorescence in situ hybridization (FISH) analysis using the chromosome 15q specific probe and the chromosome 22q specific probe detected three 15q signals in 4/104 cells (3.8%). The woman was advised to continue the pregnancy, and, a 3186-g phenotypically normal male baby was delivered at 38 weeks of gestation. …”
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Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues and a favorabl... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Schu-Rern Chern, Peih-Shan Wu, Chien-Ling Chiu, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang

“…Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes revealed 38% (38/100 cells) mosaicism for trisomy 18. The woman was advised to continue the pregnancy, and a 2620-g phenotypically normal male baby was delivered at 40 weeks of gestation. …”
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Mosaicism for a 12p12.1p12.2 microdeletion with a normal euploid cell line at amniocentesis in a pregnancy with a favorable outcome and postnatal decrease of the aneuploid cell lin... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang

“…She was referred for genetic counseling, and continuing pregnancy was advised. A 2990-g male baby was delivered at 38 weeks of gestation with no phenotypic abnormality. …”
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Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decreas... by Chih-Ping Chen, Fang-Tzu Wu, Schu-Rern Chern, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Chen-Wen Pan, Wayseen Wang

“…Despite IUGR on fetal ultrasound, the woman was advised to continue the pregnancy, and a 2252-g phenotypically normal male baby was delivered at 38 weeks of gestation. …”
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