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

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

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

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

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

Ocular manifestations of trisomy 8 mosaicim: a rare case report.

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?

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].

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

Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13.

Case Report: Transient myeloproliferative disorder with trisomy 21 in blast cells.

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

Incidentally Detected Transient Abnormal Myelopoeisis in a Placenta of Mosaic Down's Syndrome: A Case Report Describing Approach to Diagnosis.

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).

Presentation and Longer-Term Outcomes in Mosaic Trisomy 21 Causing Isolated Transient Abnormal Myelopoiesis.

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

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

Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21.

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.

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.

Comprehensive Assessment of Dermatologic and Dysmorphic Manifestations in Patients With Down Syndrome.

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

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

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.

A case of non-mosaic X trisomy (65,XXX) in a Thoroughbred mare confirmed by cytogenetic and molecular analysis.

An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria.

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

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

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.

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.

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.

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

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

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.

Late first-trimester ultrasound findings can alter management after high-risk NIPT result.

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.

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.

Evidence for nonhomologous meiotic coorientation in man.

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

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

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

Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion.

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.

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.

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

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.

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.

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.

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].

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

UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.

Prenatal diagnosis of low-level trisomy 22 mosaicism with a favorable outcome.

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].

Clinical Course for Patients With Trisomy 13 and 18 Pursuing Life-Prolonging Therapies Versus Comfort-Directed Care.

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.

BACs-on-Beads™ assay for a case of trisomy 22 confined placental mosaicism.

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).

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.

Transient Myeloproliferative Disorder: A Cytogenomic Update.

Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non-invasive prenatal screen positive for monosomy X.

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.

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.

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.

[Genetic analysis of a case of mosaic trisomy 21 associated with autism spectrum disorder].

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.

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.

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).

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

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.

Coexistent TBX1 mutation and chromosomal 20q13.13-q13.2 duplication in an infant with abnormal T-cell receptor rearrangement circle newborn screening results.

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.

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

Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results.

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

Congenital Corneal Opacities Associated With Trisomy 8 Mosaicism Syndrome.

Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report.

Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal testing.

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

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

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.

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].

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.

Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.

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

VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5.

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.

[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 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.

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

Knockdown of Myo-Inositol Transporter SMIT1 Normalizes Cholinergic and Glutamatergic Function in an Immortalized Cell Line Established from the Cerebral Cortex of a Trisomy 16 Fetal Mouse, an Animal Model of Human Trisomy 21 (Down Syndrome).

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

Discrepancy between Non-invasive Prenatal Genetic Testing (NIPT) and Amniotic Chromosomal Test due to Placental Mosaicism: A Case Report and Literature Review.

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

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

Diagnosis and clinical management of embryonic mosaicism.

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

Observed Rate of Down Syndrome in Twin Pregnancies.

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

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome.

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.

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.

Monozygotic Monochorionic Twins Discordant for Trisomy 21: A Reason to Evaluate Both Fetuses: A Case Report.

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

A rare occurrence of three consecutive autosomal trisomic pregnancies in a couple without offspring.

Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.

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

Restrained Phosphatidylcholine Synthesis in a Cellular Model of Down's Syndrome is Associated with the Overexpression of Dyrk1A.

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.

Confined placental mosaicism of double trisomies 9 and 21: discrepancy between non-invasive prenatal testing, chorionic villus sampling and postnatal confirmation.

Surgical Repair of Total Anomalous Pulmonary Venous Connection in a Neonate With Mosaic Trisomy 8.

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

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

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

Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.

[Gastrointestinal obstruction in the mosaic trisomy X].

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

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.