Results 21 to 30 of about 210 (79)

Mosaic tetrasomy 9p at amniocentesis: Prenatal diagnosis, molecular cytogenetic characterization, and literature review

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2014
Objective: This study was aimed at prenatal diagnosis of mosaic tetrasomy 9p and reviewing the literature. Materials and methods: A 37-year-old woman underwent amniocentesis at 20 weeks' gestation because of advanced maternal age and fetal ascites ...
Chih-Ping Chen   +8 more
doaj   +1 more source

Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultured amniocytes in a pregnancy with fetal pyelectasis

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2012
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 fluorescent ...
Chih-Ping Chen   +10 more
doaj   +1 more source

Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Chih-Ping Chen   +11 more
doaj   +1 more source

Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister–Killian syndrome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2014
Objective: This study aims to present molecular cytogenetic characterization of Pallister–Killian syndrome (PKS). Materials and methods: A 37-year-old woman underwent amniocentesis at 18 weeks of gestation.
Chih-Ping Chen   +8 more
doaj   +1 more source

Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissues

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissue.
Chih-Ping Chen   +9 more
doaj   +1 more source

Prenatal diagnosis of mosaic tetrasomy 18p

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from isochromosome 18p, by interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes.
Chih-Ping Chen   +7 more
doaj   +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

open access: yesTaiwanese 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   +9 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from ring chromosome 2 [r(2)]. Methods and Results: A 35-year-old woman underwent amniocentesis at
Chih-Ping Chen   +11 more
doaj   +1 more source

Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family

open access: yesMolecular Cytogenetics, 2022
Background Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally clinically affected.
Ying Zhang   +3 more
doaj   +1 more source

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