Results 11 to 20 of about 5,849,237 (150)

Prenatal diagnosis of low-level mosaic trisomy 20 by amniocentesis in a pregnancy with a favorable outcome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis of low-level mosaic trisomy 20 by amniocentesis in a pregnancy with a favorable outcome. Case report: A 35-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen   +7 more
doaj   +2 more sources

Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome.
Chih-Ping Chen   +6 more
doaj   +2 more sources

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present prenatal diagnosis of mosaic trisomy 18 in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18. Case report: A 38-year-old, primigravid woman underwent the first amniocentesis at 16 weeks of gestation ...
Chih-Ping Chen   +10 more
doaj   +1 more source

Non- Disjunction of Chromosome 21 in the Young Mother at Conception [PDF]

open access: yesPediatric Sciences Journal (Egypt), 2022
Background: Maternal age influences the type of chromosomal anomaly in Down syndrome. The older age is associated with non-disjunction while the younger age is associated with translocation of chromosome 21. Aim of the Work: To study the cytogenetics of
Hala Ahmed ElGindy   +6 more
doaj   +1 more source

Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic trisomy 20 at amniocentesis in a pregnancy with a favorable outcome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present our observation of cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic trisomy 20 at amniocentesis in a pregnancy with a favorable outcome. Case report: A 35-year-old woman underwent amniocentesis
Chih-Ping Chen   +9 more
doaj   +1 more source

Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array

open access: yesMolecular Cytogenetics, 2023
Background With the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease diagnosis, the detection of mosaicism has become increasingly prevalent.
Lili Zhou   +5 more
doaj   +1 more source

Trisomy 15 mosaicism in an IVF fetus. [PDF]

open access: yesJournal of Medical Genetics, 1992
Prenatal diagnosis of an IVF pregnancy in a woman aged 41 years showed a fetus mosaic for trisomy 15. The fetus had dysmorphic features, hypoplastic adrenal glands, and an accessory spleen. Both IVF and advanced maternal age would seem to increase the risk of trisomy 15.
C P, Bennett, T, Davis, M J, Seller
openaire   +2 more sources

Tissue specific trisomy 15 mosaicism associated with urogenital malformations

open access: yesEuropean Journal of Medical Genetics, 2023
We describe a boy born with hypospadias and later diagnosed with vesicoureteral reflux and mild cognitive disability. Routine diagnostic investigation by karyotyping, chromosomal microarray (CMA) and trio analysis with whole exome sequencing was normal.
Agneta Nordenskjöld   +3 more
openaire   +2 more sources

Low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and perinatal progressive decrease of the aneuploid cell line

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction (IUGR), cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and ...
Chih-Ping Chen   +9 more
doaj   +1 more source

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 the aneuploid cell line and a favorable fetal outcome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present low-level mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome. Case report: A 31-year-old primigravid woman underwent non-invasive prenatal testing (NIPT) at 12 weeks of gestation, and the result was normal.
Chih-Ping Chen   +8 more
doaj   +1 more source

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