Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.

An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.

Beyond the Diagnosis: A Journey of an 8-Year-Old Girl with Patau Syndrome: Case Report.

[Prenatal diagnosis and genetic analysis of four fetuses with Uniparental disomy].

Co-Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha-Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1-q24.3.

The spectrum of cytogenetics and clinical profile in Robertsonian translocations: An experience of two decades from tertiary referral center in India.

Prenatal diagnosis of Prader-Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status.

Clinical significance and association with pregnancy outcome of positive non-invasive prenatal screening for trisomy 15 in singleton pregnancy: prospective cohort study, systematic review and meta-analysis.

Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?

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

Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.

XXX/XY chimerism with urogenital malformations in a Japanese black calf.

Exome sequencing uncovers promising candidate genes for foetal structural malformations.

[A case of Turner syndrome with double pseudo-isodicentric X chromosome and mosaic karyotype diagnosed prenatally and a literature review].

Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report.

[Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies].

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

Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT).

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia.

Neuropathology of trisomy 21 mosaicism in a case with early-onset dementia.

Genetic Analysis of 17q Terminal Partial Trisomy.

Timeline to symptomatic Alzheimer's disease in people with Down syndrome as assessed by amyloid-PET and tau-PET: a longitudinal cohort study.

Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line.

Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.

Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13.

Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance.

[Prenatal diagnosis of a fetus with 15q11q13 complex duplication syndrome and a literature review].

Causes of Hospitalization in Children with Down Syndrome.

Management and Outcomes of Hepatoblastoma in Patients With Trisomy 18: A Systematic Review and Pooled Analysis of 70 Patients.

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 trisomy 21 cell line and a favorable fetal outcome.

Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in the second trimester in a pregnancy associated with positive non-invasive prenatal testing for trisomy 21, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome.

Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT.

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Trisomy 21-driven metabolite alterations are linked to cellular injuries in Down syndrome.

A 29-Year-Old Patient With Patau Syndrome: A Case Report on Medical Management.

Healthy Live Births after the Transfer of Mosaic Embryos: Self-Correction or PGT-A Overestimation?

Use of the MS-MLPA assay in prenatal diagnosis of Prader-Willi syndrome with mosaic trisomy 15.

Mosaicism for trisomy 13 in a single colony at amniocentesis in a pregnancy associated with a favorable outcome.

Positive non-invasive prenatal testing for Turner syndrome and low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome and a normal 46,XX karyotype at birth.

Relationships among maternal monosomy X mosaicism, maternal trisomy, and discordant sex chromosome aneuploidies.

Cell type-specific enrichment of somatic aneuploidy in the mammalian brain.

[Genetic analysis of the false positive trisomy 7 and false negative trisomy 18 by NIPT-PLUS].

Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results.

Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome.

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.

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.

The correlation with abnormal fetal outcome and a high level of amniotic fluid alpha-fetoprotein in mid-trimester.

Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies.

Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication.

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy).

[Clinical and genetic analysis of a case of Turner syndrome with rapidly progressive puberty and a literature review].

[Accidental discovery of copy number variation on chromosome 1 in a fetus with high risk of trisomy 13 suggested by NIPT].

Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results.

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.

Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome.

Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX.

Ruptured Sinus of Valsalva Aneurysm Diagnosed on Coronary Computed Tomography Angiography in a Patient With Trisomy 13 Syndrome.

Prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies.

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases.

Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.

Generation of functional oocytes from male mice in vitro.

Phenotypic Spectrum of Trisomy 18 Mosaicism: a New Patient and Literature Review.

Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study.

Cytogenetic study of subtypes of Down syndrome and its relation with pattern of congenital cardiac defects.

Mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the unbalanced translocation.

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.

Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.

Two clinical case reports of embryonic mosaicism identified with PGT-A persisting during pregnancy as true fetal mosaicism.

Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?

Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature.

Multidisciplinary Intervention for Patau Syndrome Patient with Long-Term Survival: A Case Report of Single Institution-Based Detailed Clinical Management.

Perinatal outcomes of prenatal cases testing positive for trisomy 9 by noninvasive prenatal testing.

Prenatal and fetal diagnosis of trisomy 18 after low-risk cell-free fetal DNA screening: A report of four cases.

Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15.

Trisomy 12p mosaicism syndrome in a patient with hypopigmented cutaneous mosaicism and three cell lines in peripheral blood.

Analysis results of 169 cases of chorionic villus samples of missed abortion using high throughput sequencing.

Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.

Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.

Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy.

Early and Innovative Rehabilitation in Warkany Syndrome 2 Associated with Agenesis of the Corpus Callosum: A Case Report.

Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome.

In vitro fertilization and preimplantation genetic diagnosis outcomes in mosaic Turner's syndrome: A retrospective cohort study from a single referral center experience.

Third-Generation Cytogenetic Analysis: Diagnostic Application of Long-Read Sequencing.

Trisomy 18-when the diagnosis is compatible with life.

The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes.

Hematological disorders in children with Down syndrome.

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.

Cytogenetic Patterns, Congenital Heart Disease, and Thyroid Dysfunction in Children with Down Syndrome.

Development and validation of a novel 26-plex system for prenatal diagnosis with forensic markers.

A patient with Turner syndrome received the percutaneous vertebroplasty seven times: a case report and literature review.

Long-term bumetanide administration altered behavioral pattern in mosaic Down's Syndrome: A case report.

Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome.

Molecular Cytogenetic Classification of Down Syndrome and Screening of Somatic Aneuploidy in Mothers.

Trisomy 21 and Assisted Reproductive Technologies: A review.

Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray.

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.

Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome.

Mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/ 46,XX at amniocentesis in a pregnancy with a favorable outcome.

Type 1 diabetes mellitus presenting with diabetic ketoacidosis in a child with Patau syndrome (trisomy 13) and persistent fetal haemoglobin.

Premature Ovarian Failure Related to Trisomy X: Two Case Reports with an Aberrant 47, XXX Karyotype.

Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies.

Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome.

Whether to transfer mosaic embryos: a cytogenetic view of true mosaicism by amniocentesis.

Low-degree trisomy 21 mosaicism promotes early-onset Alzheimer disease.

Green tea extracts containing epigallocatechin-3-gallate modulate facial development in Down syndrome.

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 15 in a pregnancy associated with recurrent Down syndrome.

[Application of Array-based Comparative Genomic Hybridization in the Prenatal Diagnosis of Fetal Chromosomal Aberration in Gravidas with Advanced Age].

Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature.

Prenatal array comparative genomic hybridization in a well-defined cohort of high-risk pregnancies. A 3-year implementation results in a public tertiary academic referral hospital.

Unusual Longevity of Edwards Syndrome: A Case Report.

Are paternal or grandmaternal age associated with higher probability of trisomy 21 in offspring? A population-based, matched case-control study, 1995-2015.

Low-level mosaic trisomy 13 at amniocentesis associated with a favorable outcome in a pregnancy.

A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14).

[Progress of research on induced pluripotent stem cell models for Down syndrome].

Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results.

Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome.

[Clinical and genetic analysis of a rare case with mosaic partial trisomy 5p syndrome].

Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing.

Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China.

Perinatal cytogenetic discrepancy in a fetus with low-level mosaicism for trisomy 21 and a favorable outcome.

Acute Megakaryoblastic Leukemia with Trisomy 21 and Tetrasomy 21 Clones in a Phenotypically Normal Child with Mosaic Trisomy 21.

Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders.

Chromosomal segregation in sperm of the Robertsonian translocation (21;22) carrier and its impact on IVF outcome.

Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism.

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.

The utility of nuchal translucency ultrasound in identifying rare chromosomal abnormalities not detectable by cell-free DNA screening.

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.

A Systematic Clinical Review of Prenatally Diagnosed Tetrasomy 9p.

Seizures in Down Syndrome: An Update.

Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?

Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature.

Cycloid Psychosis Comorbid with Prader-Willi Syndrome: A Case Series.

Chromosomal Abnormalities in Patients with Intellectual Disability: A 21-Year Retrospective Study.

Factors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study.

[Comparison of the etiological constitution of two and three or more recurrent miscarriage].

Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells.

Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings.

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.

22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Mosaic Turner syndrome shows reduced penetrance in an adult population study.

Mosaicism trisomy 10 in a 14-month-old child with additional neurological abnormalities: case report and literature review.

A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature.

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome.

[Application for prenatal diagnosis using both chromosomal karyotype analysis and BACs-on-Beads assay].

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.

Placental Pathology in Placental Mesenchymal Dysplasia with 13q12.11 Deletion and a 25-Week Gestation Female Infant.

Musculo-mucous web velum and velopharyngeal dysfunction associated with 8q22.1-22.2 microduplication.

Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome.

[SNP array analysis of three cases with partial 21q trisomy].

A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype.

[Application of Chromosomal Microarray Analysis for Chromosomal Abnormalities of Spontaneously Aborted Fetuses].

Monozygotic twins discordant for trisomy 21: Discussion of etiological events involved.

The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 16.

Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy.

Unrecognized viral infections and chromosome abnormalities as a cause of fetal death - examination with fluorescence in situ hybridization, immunohistochemistry and polymerase chain reaction.

Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome.

Effect of extended oral contraception use on the prevalence of fetal trisomy 21 in women aged at least 35 years.

Strawberry skull in Edwards syndrome.

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.

Massively Parallel Sequencing (MPS) of Cell-Free Fetal DNA (cffDNA) for Trisomies 21, 18, and 13 in Twin Pregnancies.

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.

Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing.

Diagnosis and clinical management of embryonic mosaicism.

Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis.

Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome.

Clinical Experience of Non-Invasive Prenatal Chromosomal Aneuploidy Testing in 190,277 Patient Samples.

Validation of a Chromosomal Microarray for Prenatal Diagnosis Using a Prospective Cohort of Pregnancies with Increased Risk for Chromosome Abnormalities.

A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease.

Mosaic trisomy 8 detected by fibroblasts cultured of skin.

Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.

Expanding non-invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y.

The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis.

Association of Parental Age and the Type of Down Syndrome on the Territory of Bosnia and Herzegovina.

Similar but different: identical pathology with differing outcome in 'Not-so-identical' twins.

Discordance between ultrasound and cell free DNA screening for monosomy X.

Trisomy 13: Changing Perspectives.

Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention.

Beyond Trisomy 21: Phenotypic Variability in People with Down Syndrome Explained by Further Chromosome Mis-segregation and Mosaic Aneuploidy.

Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature.

Role of Trisomy 21 Mosaicism in Sporadic and Familial Alzheimer's Disease.

Oral health needs in individuals with trisomy 18 and trisomy 13: Implications for dental professionals.

Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome.

Sphincterplasty for Velopharyngeal Insufficiency in the Child Without a Cleft-Palate: Etiologies and Speech Outcomes.

[Gastrointestinal obstruction in the mosaic trisomy X].

Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.

The potential impact of NIPT as a second-tier screen on the outcomes of high-risk pregnancies with rare chromosomal abnormalities.

Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes.

[Application of next-generation DNA sequencing for prenatal testing of fetal chromosomal aneuploidies].

Postnatal Identification of Trisomy 21: An Overview of 7,133 Postnatal Trisomy 21 Cases Identified in a Diagnostic Reference Laboratory in China.

Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI.

A fertile patient with 45X/47XXX mosaicism.

The unprecedented recurrent diploid/tetraploid mosaicism of trisomy-18 (mixoploidy; 4n+18/2n+18): clinical report.

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

First trimester screening for other trisomies than trisomy 21, 18, and 13.

A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review.