• <em>De novo</em> mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication
• 21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders
• A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay
• A novel heptasomy 21 associated with complete loss of heterozygosity and loss of function RUNX1 mutation in acute myeloid leukemia
• A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion
• A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing
• A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review
• A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms
• Acute myeloid leukaemia with t(8;21)(q22;q22.3) and loss of the X chromosome
• Alopecia, deformed ear and mental retardation associated with terminal 21q deletion
• Analysis for 6-methyladenine modification of DNA in chorionic tissue from aborted fetuses with monosomy 21
• Analysis of a infertile female with ring 21 chromosome using combined techniques
• BACs-on-Beads™ (BoBs™) assay for the genetic evaluation of prenatal samples and products of conception
• Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3
• Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1
• Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21
• Causality between myopathic hypotonia-cystinuria syndrome (HCS) and noncompaction (LVHT) is not compelling
• Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5
• Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods
• Characterization of human PGD blastocysts with unbalanced chromosomal translocations and human embryonic stem cell line derivation?
• Chromosome 17 and 21 aneuploidy in buccal cells is increased with ageing and in Alzheimer's disease
• Clinical analysis of acute myeloid leukemia with t(8;21) (q22;q22) and loss of Y chromosome
• Clinical and molecular cytogenetic studies in ten patients with hematological malignancies characterized by t(20;21)(q11;q11) resulted from del(20q)
• Clonal monosomy of chromosome 21 in a case of myelodysplastic syndrome
• Coexistent t(8;21)(q22;q22) Translocation and 5q Deletion in Acute Myeloid Leukemia
• Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndrome
• Combined immunodeficiency in a patient with mosaic monosomy 21
• Complete monosomy 21 confirmed by FISH and array-CGH
• Complete monosomy mosaic of chromosome 21: case report and review of literature
• Comprehensive chromosome screening and gene expression analysis from the same biopsy in human preimplantation embryos
• Contraction behaviour reduces embryo competence in high-quality euploid blastocysts
• Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior
• Cumulus cells of euploid versus whole chromosome 21 aneuploid embryos reveal differentially expressed genes
• Cytogenetic aberration in mixed-phenotype acute leukemia in children: A single-center retrospective review
• De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection
• Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature
• Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report
• Deletion of PREPl causes growth impairment and hypotonia in mice
• Deletion of the App-Runx1 region in mice models human partial monosomy 21
• Detection of 21q11.2-q22.11 deletions in a fetus by NIPT
• Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype
• Developmental potential of aneuploid human embryos cultured beyond implantation
• Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), -21
• DOES THE PATTERN OF CLONAL EVOLUTION IN THE KARYOTYPE OF PATIENTS WITH ACUTE MYELOID LEUKEMIA AND MYELODYSPLASTIC SYNDROMES DEPEND ON THE TYPE OF THE PRIMARY CHROMOSOMAL ABERRATIONS?
• Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient
• Engineering of Systematic Elimination of a Targeted Chromosome in Human Cells
• Familial myelodysplastic syndromes: a review of the literature
• First cardiac manifestation of hypotonia-cystinuria syndrome
• Full monosomy 21: echocardiographic findings in the third molecularly confirmed case
• Genetic dissection of the Down syndrome critical region
• Genomic analysis of partial 21q monosomies with variable phenotypes
• High-level mosaic monosomy 21 in a 13-year-old girl: Case report and review of the literature
• Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy
• How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review
• Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation
• Hypoplastic left heart syndrome and 21q22.3 deletion
• Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
• Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X
• Investigation of chromosome 21 aneuploidies in breast fibroadenomas by fluorescence in situ hybridisation
• Lethal renal anomalies in a fetus with 21q22.11-q22.12 deletion
• Meningioma in Down Syndrome
• Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition
• Molecular Cytogenetic Characterization of a Case of a Myelodysplastic/Myeloproliferative Neoplasm, Chronic Myelomonocytic Leukemia-1 (CMML-1) with Abnormal Karyotype with an Apparent Monosomy 7 Resulting in Rearrangements Involving Chromosomes 7 and 21
• Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
• Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature
• Monosomy 21q22.11-q22.13 presenting as a Fanconi anemia phenotype
• Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
• Mosaic and partial monosomy of chromosome 21 in a case with low platelets count
• Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3
• Music therapy in a sleepless child with Pierre Robin sequence, partial trisomy 14 and partial monosomy 21
• Non-invasive fetal trisomy (NIFTY) test in prenatal diagnosis
• Novel <em>MYCBP::EHD2</em> and <em>RUNX1::ZNF780A</em> Fusion Genes in T-cell Acute Lymphoblastic Leukemia
• Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report
• Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region
• Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay
• Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
• Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations
• Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association
• Prenatal diagnosis and molecular cytogenetic characterization of a pure ring chromosome 21 with a 4.657-Mb 21q22.3 deletion
• Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 21 associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening
• Prenatal diagnosis of a case with 46,XX,del(4),dup(21)
• Prenatal diagnosis of a fetus with Phelan-McDermid syndrome and 21q21 microdeletion by multiple genetic techniques
• Prenatal diagnosis of partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis
• Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development
• Psychiatric Disorders and Distal 21q Deletion-A Case Report
• Pure 21q22.3 deletion identified in a patient with mild phenotypic features
• Relationship between age and blastocyst chromosomal ploidy analyzed by noninvasive preimplantation genetic testing for aneuploidies (niPGT-A)
• Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia
• RUNX1 amplification in AML with myelodysplasia-related changes and ring 21 chromosomes
• Semilobar holoprosencephaly with 21q22 deletion: an autopsy report
• Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion
• Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients
• Successful treatment with azacitidine for the simultaneous occurrence of multiple myeloma and acute myeloid leukemia with concomitant del(5q) and the JAK2 V617F mutation
• Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
• The first report showing de novo partial 21q monosomy in an adult woman with occult primary ovarian insufficiency (POI)
• Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of <em>RUNX1</em>: Cytogenetic and Molecular Characterization
• Transcriptomic behavior of genes associated with chromosome 21 aneuploidies in early embryo development
• Transformed aggressive γδ-variant T-cell large granular lymphocytic leukemia with acquired copy neutral loss of heterozygosity at 17q11.2q25.3 and additional aberrations
• Transient Myeloproliferative Disorder: A Cytogenomic Update
• Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines