Results 31 to 40 of about 5,720 (89)
Clinical Case Reports, 2021 46,XY female is a genetic disorder characterized by gonad gender not consistent with chromosomal sex. The SRY gene mutation is a common cause of 46,XY reversal type 1 (OMIM: 400044).
Shengfang Qin, Xueyan Wang, Yunxing Li
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Detection of altered methylation status at 11p15.5 and 7q32 in placental mesenchymal dysplasia
Taiwanese Journal of Obstetrics & Gynecology, 2014 Objective: This paper aims to present molecular cytogenetic and epigenetic evaluation of placental mesenchymal dysplasia (PMD). Materials and methods: A 33-year-old woman was referred to the hospital at 18 weeks of gestation because of a multicystic mass
Chih-Ping Chen +7 more
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Taiwanese Journal of Obstetrics & Gynecology, 2015 Objective: To present prenatal diagnosis and molecular cytogenetic characterization of mosaic isochromosome 20q at amniocentesis. Materials and methods: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age,
Chih-Ping Chen +7 more
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Frontiers in Genetics, 2023 Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters ...
Lingping Li +26 more
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Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR. [PDF]
PLoS ONE, 2014 The aim of this study was use a simple and rapid procedure, called segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR), for the prenatal diagnosis of fetal chromosomal aneuploidies.
Xiangdong Kong +11 more
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Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review
Taiwanese Journal of Obstetrics & Gynecology, 2011 Objective: To present prenatal diagnosis of mosaic trisomy 8 and to review the literature. Materials, Methods, and Results: A 34-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age.
Chih-Ping Chen +7 more
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Genetic analysis of chorionic villus tissues in early missed abortions
Scientific Reports, 2023 Chromosomal abnormalities are the most common etiology of early spontaneous miscarriage. However, traditional karyotyping of chorionic villus samples (CVSs) is limited by cell culture and its low resolution.
Huili Xue +5 more
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Taiwanese Journal of Obstetrics & Gynecology, 2020 Objective: We present mosaic trisomy 15 at amniocentesis. Materials and methods: A 41-year-old woman underwent amniocentesis at 16 weeks of gestation because of an abnormal non-invasive prenatal testing (NIPT) result suspicious of trisomy 15 ...
Chih-Ping Chen +10 more
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Taiwanese Journal of Obstetrics & Gynecology, 2012 Objective: The purpose of this case report is to present prenatal diagnosis and molecular cytogenetic characterization of pure partial monosomy 3p (3p25.3 → pter) by array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase ...
Chih-Ping Chen +6 more
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Taiwanese Journal of Obstetrics & Gynecology, 2020 Objective: We present detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age.
Chih-Ping Chen +6 more
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