Taiwanese Journal of Obstetrics & Gynecology, 2022 Objective: We present detection of maternal uniparental disomy (UPD) 9 in association with low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction (IUGR), an abnormal first-trimester maternal serum ...
Chih-Ping Chen +7 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: We present prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies. Case report: A 37-year-old, gravida 3, para 1, woman was referred for genetic counseling because of cystic ...
Chih-Ping Chen +7 more
doaj +1 more source
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]
, 2016 Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias +7 more
core +2 more sources
Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan
Molecular Cytogenetics, 2021 Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma.
Malgorzata Ilona Srebniak +5 more
doaj +1 more source
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
, 2011 We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
core +2 more sources
Scientific Reports, 2022 To examine the detection performance of a peptide nucleic acid (PNA) probe-based real-time time polymerase chain reaction (PCR) assay to detect common aneuploidies.
Subeen Hong +9 more
doaj +1 more source
Rapid non-invasive prenatal screening test for trisomy 21 based on digital droplet PCR
Scientific Reports, 2023 Non-invasive prenatal tests for the detection of fetal aneuploidies are predominantly based on the analysis of cell-free DNA (cfDNA) from the plasma of pregnant women by next-generation sequencing. The development of alternative tests for routine genetic
Soňa Laššáková +8 more
doaj +1 more source
Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]
, 2014 We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S +4 more
core +1 more source
Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84 [PDF]
, 1986 The localization of chromosome 18 in human interphase nuclei is demonstrated by use of radioactive and nonradioactive in situ hybridization techniques with a DNA clone designated L1.84.
A. Brückner +33 more
core +1 more source
Expression of bcl-3 in Chronic Lymphocytic Leukemia Correlates With Trisomy 12 and Abnormalities of Chromosome 19 [PDF]
American Journal of Clinical Pathology, 2005 The bcl-3 gene at chromosome 19q13 encodes a member of the IkB family involved in regulating the nuclear factor kB pathway. Originally identified by its involvement in the t(14:19)(q32;q13), bcl-3 expression recently has been reported in 12% of non-Hodgkin lymphomas and 41% of Hodgkin lymphomas. Because the t(14;19) is detected most commonly in chronic
Ellen, Schlette +3 more
openaire +2 more sources