Results 81 to 90 of about 7,985 (170)

Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy

, 2012
[[abstract]]"To present prenatal molecular cytogenetic diagnosis of mosaicism for terminal 3p deletion and distal 3q duplication using cultured and uncultured amniocytes, and the association with fetoplacental discrepancy.
陳持平;Chen, Chih-Ping
core  

Mosaic Trisomy 9 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 9. Materials, Methods and Results: A 35-year-old woman, gravida 3, para 1, underwent amniocentesis at 17 weeks of gestation because of her advanced maternal age ...
Chih-Ping Chen, Hsien-Ming Lin, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Pei-Chen Wu, Chen-Chi Lee, Yu-Ting Chen, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang   +10 more
doaj   +1 more source

Development of an Alu-PCR Amplified YAC Probe Suitable for Enumeration of Chromosome 13 on Uncultured Lymphocytes and Amniocytes by Fluorescence in situ Hybridization [PDF]

, 2010
The main objective of the present study was to develop an efficient and reliable probe to be routinely used for detection of chromosome 13 copy numbers by interphase FISH. To achieve this, a Yeast Artificial Chromosome (YAC) containing sequences specific

core   +1 more source

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis of a 4p16.3 interstitial microdeletion associated with bilateral cleft lip and palate and short long bones on prenatal ultrasound, and we discuss the genotype–phenotype correlation.
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Li-Feng Chen, Wayseen Wang   +9 more
doaj   +1 more source

Antenatal Detection of Trisomy 21 from Mosaic Translocation in Uncultured Amniocytes by Interphasic FISH

Hereditary Genetics, 2017
Introduction: We report a rare case of fetus having trisomy 21 from mosaic translocation. The purpose of this study was to present the interest of interphasic fluorescence in situ hybridization (FISH) performed on uncultured amniocytic cells in prenatal diagnosis of trisomy 21.
Henriette Poaty, Dominique Carlesand Laurence Taine   +1 more
openaire   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaic trisomy 12 at amniocentesis associated with a favorable pregnancy outcome

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis of low-level mosaic trisomy 12. Case Report: A 40-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+12[5]/46,XX[24] consistent ...
Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang   +8 more
doaj   +1 more source

An early prenatal diagnosis of a 69,XXY case using quantitative fluorescent PCR (QF-PCR) in uncultured amniocytes

, 2006
Quantitative fluorescent polymerase chain reaction (QF-PCR) has been largely employed for rapid detection of common aneuploidies in prenatal and postnatal diagnosis and consists in DNA amplification by PCR using fluorescent labelled primers and the ...
Biri, A, Kuskucu, Mert Ahmet, Ergun, MA, Pala, E, Karaoguz, MY   +4 more
core   +2 more sources

Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR and aCGH analyses on uncultured amniocytes for rapid distinguishing true mosaicism from pseudomosaicism

, 2012
[[abstract]]Objective: To present prenatal diagnosis of true trisomy 7 mosaicism. Materials, Methods and Results: A 36-year-old woman underwent amniocentesis at 18 weeks of gestation. Amniocentesis revealed a karyotype of 47,XY,þ7[20]/46,XY[9].
Chih-Ping Chen;Hsu-Kuang Huang;Yi-Ning Su;Schu-Rern Chern;Jun-Wei Su;Chen-Chi Lee;Dai-Dyi Town;Wen-Lin Chen;Yu-Ting Chen;Wayseen Wang
core  

Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase FISH, QF-PCR and aCGH on uncultured amniocytes in a pregnancy with fetal pyelectasis

, 2012
[[abstract]]"Objective This study aimed at presenting prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 8 by fluorescence in situ hybridization (FISH), quantitative ...
陳持平;Chen, Chih-Ping;Chen-Wen Pan, ;Wang, Wayseen
core  

Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses. [PDF]

Mol Cytogenet, 2023
Qin S, Wang X, Wang J, Xi N, Yan M, He Y, Ye M, Zhang Z, Yin Y.   +8 more
europepmc   +1 more source