Trisomy 12 Mosaicism Latest Advances

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: November 05, 2024

Trisomy 12 Mosaicism Latest Advances

Find the Latest Research About Trisomy 12 Mosaicism

Prevention of recurrence of severe combined immunodeficiency through preimplantation genetic testing: a case study of a novel IL2RG variant and confirmed maternal somatic mosaicism in Thailand.

Prevention of recurrence of severe combined immunodeficiency through preimplantation genetic testing: a case study of a novel IL2RG variant and confirmed maternal somatic mosaicism in Thailand.

Combined CNV-seq and STR polymorphism analysis for the genetic diagnosis of 553 cases of spontaneous abortion

Combined CNV-seq and STR polymorphism analysis for the genetic diagnosis of 553 cases of spontaneous abortion

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT.

Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT.

The Spectrum of Mosaic Double Aneuploidy of Monosomy X and Trisomy 18: Two New Cases and Review of the Literature.

The Spectrum of Mosaic Double Aneuploidy of Monosomy X and Trisomy 18: Two New Cases and Review of the Literature.

A case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells: Challenges and reflections in prenatal diagnosis

A case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells: Challenges and reflections in prenatal diagnosis

Placental cytogenetic testing for confined placental mosaicism and obstetrical outcomes after discordant cell-free DNA screening results.

Placental cytogenetic testing for confined placental mosaicism and obstetrical outcomes after discordant cell-free DNA screening results.

Results of screening and prenatal diagnosis for 71 fetuses with high risk for trisomy/monosomy 13 syndrome by non-invasive prenatal screening

Results of screening and prenatal diagnosis for 71 fetuses with high risk for trisomy/monosomy 13 syndrome by non-invasive prenatal screening

Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study.

Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study.

Genetic analysis of a Chinese pedigree with rare mosaic 11q partial duplication and a literature review

Genetic analysis of a Chinese pedigree with rare mosaic 11q partial duplication and a literature review

Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype.

Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype.

Mental Health Diagnoses Associated With Sex Chromosome Anomalies.

Mental Health Diagnoses Associated With Sex Chromosome Anomalies.