• <em>De novo</em> mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication
• A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay
• A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion
• Alopecia, deformed ear and mental retardation associated with terminal 21q deletion
• Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3
• Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods
• De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection
• Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report
• Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype
• Familial myelodysplastic syndromes: a 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
• Lethal renal anomalies in a fetus with 21q22.11-q22.12 deletion
• Monosomy 21q22.11-q22.13 presenting as a Fanconi anemia phenotype
• Novel <em>MYCBP::EHD2</em> and <em>RUNX1::ZNF780A</em> Fusion Genes in T-cell Acute Lymphoblastic Leukemia
• Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
• 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 partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis
• Psychiatric Disorders and Distal 21q Deletion-A Case Report
• Pure 21q22.3 deletion identified in a patient with mild phenotypic features
• Semilobar holoprosencephaly with 21q22 deletion: an autopsy report