• 18p Deletion Syndrome: Case Report with Clinical Consideration and Management
• 18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency
• 18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotype
• 18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction
• 18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature
• A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
• A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation
• A case of de novo 18p deletion syndrome with panhypopituitarism
• A case of de novo mosaic 18q21.3 deletion with a mild phenotype
• A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
• A case report of Ring chromosome 18 with systemic Lupus Erythematosus and Crohn's disease
• A CASE WITH 18q DELETION SYNDROME IDENTIFIED WITH B CELL ABSENCE AND CONGENITAL HEART DISEASE
• A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis
• A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype
• A novel case of global developmental delay syndrome with microdeletion at 10p14-p15.3 and microduplication at 18p11.31-p11.32
• A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria
• A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation
• A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18
• An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32-11.22
• Atresia or severe stenosis of the external auditory canals with normal auricles in children
• B-precursor acute lymphoblastic leukemia complicating 18q deletion syndrome
• BCL2 and miR-15/16: from gene discovery to treatment
• Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature
• Case report of a novel phenotype in 18q deletion syndrome
• Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip
• Catathrenia in Pitt-Hopkins syndrome associated with 18q interstitial deletion
• Cerebral white matter abnormalities associated with chromosome 18q duplication
• Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency
• Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision
• Chromosome microarray analysis of patients with 18q deletion syndrome
• Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant
• Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review
• Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects
• Collateral Lethality in Pancreatic Cancer
• Congenital hypopituitarism with monosomy of chromosome 18
• Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non-syndromic patients and literature review
• Craniofacial and Neurological Phenotype in a Patient with De Novo 18q Microdeletion and 18p Microduplication
• Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature
• Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects
• Discovery of a Chinese familial deletion 18p syndrome due to a false positive result on noninvasive prenatal testing
• Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients
• Dystonic tremor and blepharospasm in a patient with deletion of 18q
• Early colon cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up
• Epilepsy and chromosome 18 abnormalities: A review
• Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome
• Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders
• Features of two cases with 18q deletion syndrome
• First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities
• Genetic analysis of a fetus with partial 18p tetraploidy syndrome
• Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene
• Genome-wide association study of copy number variations (CNVs) with opioid dependence
• Genotype and phenotype analysis of a child with partial 18q deletion syndrome
• Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome
• Growth hormone treatment in a patient with deletion of the long arm of chromosome 18: An 8-year observation
• Hypothyroidism and levothyroxine-responsive liver dysfunction in a patient with ring chromosome 18 syndrome
• Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts
• Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency
• Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
• Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome
• Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies
• Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion
• Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
• Mirror Syndrome Associated with 18p Deletion Syndrome
• Molecular convergence of neurodevelopmental disorders
• Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome
• Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome
• Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
• Mood disorders in individuals with distal 18q deletions
• Mosaic chromosome 18q partial deletion syndrome with bilateral full-thickness corneal disease: surgical intervention and histopathology
• MR spectroscopy in 18q(-) syndrome suggesting other than hypomyelination
• Myelodysplastic syndrome with fibrosis and complex karyotype arising in a patient with essential thrombocythaemia
• Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions
• Non-Invasive Prenatal Genetic Testing (NIPT) Leading to Prenatal Diagnosis of Trisomy 21 Mosaicism and 18q Deletion Syndrome: Two Cases
• Noninvasive prenatal testing aids identification of tetrasomy 18p: A case report
• Oral Care in a Patient with Long Arm Deletion Syndrome of Chromosome 18: A Narrative Review and Case Presentation
• Patchy white matter hyperintensity in ring chromosome 18 syndrome
• Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review
• Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1
• Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1
• Prenatal diagnosis and molecular cytogenetic characterization of partial dup(18q)/del(18p) due to a paternal pericentric inversion 18 in a fetus with multiple anomalies
• Prenatal diagnosis of chromosome 18 long arm deletion syndrome by high-throughput sequencing: Two case reports
• Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: Three case reports
• Prenatal diagnosis of de novo partial trisomy 18p and partial monosomy 18q recurrent in a family with fatal aortic coarctation
• Prenatal diagnosis of monosomy 18p associated with holoprosencephaly: case report
• Pulmonary artery sling in a 22-month-old boy with 18q deletion syndrome: A rare but possible association
• Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation
• Rarely Seen Nasal Congenital Problems Causing Neonatal Upper Respiratory Obstruction: A Case Series
• Result of prenatal diagnosis for 151 high-risk women by noninvasive prenatal screening based on high-throughput sequencing
• Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18
• Skin manifestations of chromosome 18q deletion syndrome
• Spectrum of Movement Disorders in 18p Deletion Syndrome
• Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes
• Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report
• The genotype and phenotype of chromosome 18p deletion syndrome: Case series
• Tocilizumab and adalimumab in an 18q deletion syndrome patient with chronic arthritis
• Tourette syndrome, obsessive compulsive behavior, and dysmorphic features in a patient with deletions at chromosome 18q22.1 and chromosome 13q12.3-q13.1
• Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome
• Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer-Rokitansky-Kuster-Hauser Syndromes
• Ulerythema ophryogenes as an entity associated with 18p- syndrome in a pediatric patient
• Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome