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Acute Megakaryoblastic Leukemia with Trisomy 21 and Tetrasomy 21 Clones in a Phenotypically Normal Child with Mosaic Trisomy 21 [PDF]

open access: yesCase Reports in Pediatrics, 2020
Pediatric acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML) that may be divided into two subgroups: (1) Down syndrome- (DS-) related AMKL which generally has a favorable prognosis and (2) non-DS-related AMKL which ...
Eric Won   +3 more
doaj   +8 more sources

Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21. [PDF]

open access: yesCold Spring Harb Mol Case Stud, 2021
Trisomy 21 is a common congenital disorder with well-documented clinical manifestations, including an increased risk for the transient myeloproliferative disorder as a neonate and leukemia in childhood and adolescence. Transient myeloproliferative disorder is only known to occur in hematopoietic cells with trisomy 21.
Baca N   +4 more
europepmc   +4 more sources

Prenatal diagnosis of maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present prenatal diagnosis of maternal uniparental disomy (UPD) 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction (IUGR) and a favorable outcome.
Chih-Ping Chen   +8 more
doaj   +1 more source

Mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy 21 and postnatal decrease of the trisomy 21 cell line

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy (UPD) 21 and postnatal decrease of the trisomy 21 cell line.
Chih-Ping Chen   +10 more
doaj   +1 more source

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, 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 in a pregnancy with a favorable fetal outcome. Case report: A 34-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen   +5 more
doaj   +1 more source

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 and a favorable fetal outcome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present 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 and a favorable fetal outcome. Case report: A 36-year-
Chih-Ping Chen   +6 more
doaj   +1 more source

High-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive NIPT for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty liver of pregnancy and intrauterine fetal death in late gestation

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present high-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing (NIPT) for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty liver of pregnancy and
Chih-Ping Chen   +7 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

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

open access: yesPediatric Sciences Journal, 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

Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2021
Objective: We present prenatal diagnosis of maternal uniparental disomy (UPD) 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction (IUGR) in the fetus.
Chih-Ping Chen   +9 more
doaj   +1 more source

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