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

Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.

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.

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.

Clinical and Molecular Presentation of a Patient with Paternal Uniparental Isodisomy of Chromosome 16.

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

Exome sequencing uncovers promising candidate genes for foetal structural malformations.

Prenatal diagnosis and genetic counseling of a case with trisomy 20 mosaicism and mixed-type maternal UPD20.

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

Characterization of Constitutional Ring Chromosomes over 37 Years of Experience at a Single-Site Institution.

[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].

Down syndrome with Alzheimer's disease brains have increased iron and associated lipid peroxidation consistent with ferroptosis.

Partial 3q tetrasomy: Defining the syndrome, neocentromeres, and an additional case report.

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

Clinical and Genetic Characterization of 8 Patients with Syndromic Patterned Cutaneous Hypopigmentation: A Descriptive Study.

The fetal brain neurosonography in trisomy 21: the seagull sign and thinned subplate.

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

Presenting Characteristics and Medical Conditions in 67 Cases With Trisomy 9 Mosaicism.

A rare mosaic trisomy 22 syndrome in a 7-year-old boy: rare case report.

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

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.

The effects of mosaicism on biological and clinical markers of Alzheimer's disease in adults with Down syndrome.

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.

A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.

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.

The Discovery of Common Chromosome Aneuploidies with Medical Implications Through Innovative Analysis of Ancient DNA (aDNA).

Monocentric Study on the Performance of Noninvasive Prenatal Testing on Cell-Free DNA for the Detection of Monosomy X.

Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.

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

Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature.

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.

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.

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

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

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.

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.

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.

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.

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

Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues and a favorable fetal outcome.

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.

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.

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

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

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

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.

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.

Secular decrease in chromosomal mosaicism in cultured and uncultured peripheral blood cells of six patients with mosaic Down syndrome.

Evidence for nonhomologous meiotic coorientation in man.

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.

De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review.

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

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

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.

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18.

Detection of maternal origin of fetal trisomy 18 in a pregnancy with incidental detection of low-level mosaicism for X aneuploidy in a 46-year-old woman.

High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line.

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.

iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes.

Severe recalcitrant hidradenitis suppurativa in a 2-year-old boy with partial trisomy 13.

Presentation of Congenital Portosystemic Shunts in Children.

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.

Noninvasive Prenatal Screening Based on Second-Trimester Ultrasonographic Soft Markers in Low-Risk Pregnant Women.

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.

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.

Multifactorial origin of pulmonary hypertension in a child with congenital heart disease, Down syndrome, and BMPR-2 mutation.

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.

Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay.

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

Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience.

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.

[Clinical characteristics and prenatal diagnosis of fetuses with sex chromosomal aneuploidies detected by non-invasive prenatal testing during early and midterm pregnancies].

The link between hidradenitis suppurativa and phylloid hypomelanosis in partial trisomy-13 mosaicism: New evidences and further genetic/pathogenetic insights.

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].

Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report.

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.

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

Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy.

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

Clinical Review of Noninvasive Prenatal Testing: Experience from 551 Pregnancies with Noninvasive Prenatal Testing-Positive Results in a Tertiary Referral Center.

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.

Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, China.

Relationship between age and blastocyst chromosomal ploidy analyzed by noninvasive preimplantation genetic testing for aneuploidies (niPGT-A).

Use of noninvasive prenatal screening with cell-free DNA in late pregnancy with sonographic soft markers.

Fetal aneuploidy screening by non-invasive prenatal testing of maternal plasma DNA sequencing with "false negative" result due to confined placental mosaicism: A case report.

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.

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

Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis.

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.

Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies.

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

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

Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review.

Evidence for the Oocyte Mosaicism Selection model on the origin of Patau syndrome (trisomy 13).

Seizures in Down Syndrome: An Update.

Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review.

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.

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines.

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.

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

Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines.

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].

Primary myelofibrosis but not autoimmune myelofibrosis accompanied by Sjögren's syndrome and primary biliary cirrhosis in a patient with trisomy 8 mosaic: a case report and literature review.

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

Prenatal diagnosis of Down syndrome: A 13-year retrospective study.

Down Syndrome - Genetics and Cardiogenetics.

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

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

Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism.

The Anesthetic Management for a Patient With Trisomy 13.

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.

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.

[Mosaic trisomy 18. Series of cases].

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

Coexistence of fusion and concrescence of primary teeth: in a child with Down syndrome.

Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA.

CASE-REPORT Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly.

Phylloid hypomelanosis associated with a mosaic trisomy 13 in the 13q31.3-qter region: atypical phylloid distribution and typical hypomelanosis.

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

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

Wilms tumor accompanied by premature chromatid separation.

Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial.

Report of a Case with Trisomy 9 Mosaicism.

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

Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report.

Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.

A rare case of mosaic 45,X/47,XX,+13 in 28-year-old women with secondary amenorrhoea: A case report and literature review.

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

Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation.

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

Maternal mosaicism of sex chromosome causes discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing.

Are de novo rea(21;21) chromosomes really de novo?

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

Down syndrome--genetic and nutritional aspects of accompanying disorders.

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].

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.

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.

Screening for Hematological Disorders in Mosaic Down Syndrome: Parent Report of Experiences.

A fertile patient with 45X/47XXX mosaicism.

Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation.

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

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

Increased risk after noninvasive prenatal screening on cell-free DNA circulating in maternal blood: does a new indication for invasive prenatal diagnosis require new criteria for confirmatory cytogenetic analysis?

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.