• 18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review
• 18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment
• 18p Deletion Syndrome: Case Report with Clinical Consideration and Management
• 22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2)
• 47,XY,+der(X)t(X;18)(p11.4;p11.22): A Unique Aneuploidy Associated with Klinefelter Syndrome due to an Extra Derivative X Chromosome Inherited Maternally
• 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 18p deletion syndrome after blepharoplasty
• 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 prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
• A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis
• A child with 18p- syndrome: a case report
• A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome
• A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype
• A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach
• A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria
• A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome
• A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18
• Aberrant subclavian artery origin in tetralogy of Fallot with pulmonary stenosis is associated with chromosomal or genetic abnormality
• Almost asymptomatic 18p deletion syndrome
• An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32-11.22
• Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion
• Autoimmune polyendocrinopathy associated with ring chromosome 18
• Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes
• Caudal regression syndrome associated with the white matter lesions and chromosome 18p11.2 deletion
• Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits
• Characteristics of dystonia in the 18p deletion syndrome, including a new case
• Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review
• Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes
• Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation
• CLINICAL FEATURES OF A CASE WITH 46,XX,del(18)(p11.1p11.3)
• Clinical outcome: a monosomy 18p is better than a tetrasomy 18p
• Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder
• Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion
• Craniofacial and Neurological Phenotype in a Patient with De Novo 18q Microdeletion and 18p Microduplication
• De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems
• De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation
• Del (18p) syndrome with increased nuchal translucency revealed in prenatal diagnosis
• Deletion of short arm of chromosome 18, Del(18p) syndrome
• Deletion on the short arm of chromosome 18 syndrome diagnosed by array comparative genomic hybridization. Presentation of one case with a mild phenotype
• Delineation variable genotype/phenotype correlations of 6q27 terminal deletion derived from dic(6;18)(q27;p10)
• Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata
• Discovery of a Chinese familial deletion 18p syndrome due to a false positive result on noninvasive prenatal testing
• Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion
• Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation
• Familial 18p syndrome -- a clinical case
• Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability
• Familial deletion 18p syndrome: case report
• Genetic analysis of a fetus with partial 18p tetraploidy syndrome
• Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome
• GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome
• Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome
• Identification and characterization of a new type of asymmetrical dicentric chromosome derived from a single maternal chromosome 18
• Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
• Inherited deletion of 9p22.3-p24.3 and duplication of 18p11.31-p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes
• Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome
• Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18
• Making chromosome abnormalities treatable conditions
• Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients
• Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly
• Mirror Syndrome Associated with 18p Deletion Syndrome
• Molecular cytogenetic profiling of complex karyotypes in primary myelodysplastic syndromes and acute myeloid leukemia
• Monosomy 18p
• Monosomy 18p and immunologic dysfunction: review of the literature and a new case report with thyroiditis, IgA deficiency, and systemic lupus erythematosus
• Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
• Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization
• Movement Disorders in 18p Deletion Syndrome: A Case Report and Review of Literature
• Myoclonus-dystonia in 18p deletion syndrome
• Neuropsychological function in a child with 18p deletion syndrome: a case report
• Noninvasive prenatal testing aids identification of tetrasomy 18p: A case report
• Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy
• Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome
• Phenotypic and genetic analysis of a boy with a 10p15.3 deletion and partial trisomy 18p syndrome
• Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review
• Prenatal diagnosis and molecular cytogenetic characterisation of a de novo 18p deletion
• 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 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
• Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects
• Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy
• Psychiatric syndromes in individuals with chromosome 18 abnormalities
• Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
• Response to growth hormone treatment in a patient with 18p-syndrome
• Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18
• Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects
• Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service
• Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism
• Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency
• Spectrum of Movement Disorders in 18p Deletion Syndrome
• Syndromic non-compaction of the left ventricle: associated chromosomal anomalies
• Tetrasomy 18p syndrome and hearing loss. An unusual case
• The genotype and phenotype of chromosome 18p deletion syndrome: Case series
• The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18
• Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation
• Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
• 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
• Ulerythema ophryogenes, a rare and often misdiagnosed syndrome: analysis of an idiopathic case