Search Results - "cytogenetics"
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241
Rapid diagnosis of trisomy 18 of maternal origin by quantitative fluorescent polymerase chain reaction analysis following tissue culture failure for conventional cytogenetic analysis in a fetus with holoprosencephaly, ventricular septal defect, arthrogryposis of bilateral wrists and aplasia of the thumbs
Published 2021Connect to this object online.
Book -
242
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Prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes
Published 2021Connect to this object online.
Book -
247
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Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability
Published 2016Connect to this object online.
Book -
250
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251
Low-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, positive non-invasive prenatal testing for trisomy 14, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome
Published 2024Connect to this object online.
Book -
252
Mosaic distal 10q deletion or 46,XY,del(10) (q26.13)/46,XY at amniocentesis and cordocentesis 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
Published 2024Connect to this object online.
Book -
253
45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes
Published 2023Connect to this object online.
Book -
254
Mosaic trisomy 16 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for trisomy 16, placental trisomy 16, intrauterine growth restriction, intrauterine fetal death, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, and prenatal progressive decrease of the aneuploid cell line
Published 2023Connect to this object online.
Book -
255
De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: Prenatal diagnosis and molecular cytogenetic characterization
Published 2013Connect to this object online.
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256
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Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, intrauterine growth restriction and a favorable fetal outcome
Published 2023Connect to this object online.
Book -
259
Mechanisms Driving Karyotype Evolution and Genomic Architecture
Published 2021Subjects: “…cytogenetics…”
DOAB: download the publication
DOAB: description of the publication
Electronic Book Chapter -
260
Prenatal diagnosis and molecular cytogenetic characterization of a de novo deletion of 4q34.1→qter associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening, congenital heart defect on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result
Published 2022Connect to this object online.
Book