• A case report of prenatally diagnosed tetrasomy 18p
• A case with isochromosome 18p and 2q13 deletion including the BUB1 gene
• Aberrations of chromosome 18 and their significance in genetic counseling
• Abnormal bone mineral content and density in people with tetrasomy 18p
• Adults with Chromosome 18 Abnormalities
• Behavioral management of a long-term survivor with tetrasomy 18p
• Case report of tetrasomy 18p in a girl
• Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
• Clinical outcome: a monosomy 18p is better than a tetrasomy 18p
• Confirmation of isochromosome 18p using whole chromosome arm-specific fluorescence in situ hybridization
• Constitutional tetrasomy 18p
• De novo isochromosome 18p in a female dysmorphic child
• De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting
• Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes
• Different conformation of two supernumerary 18p isochromosomes, one with a concomitant partial 18q trisomy
• Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p
• Fluorescence in situ hybridization in 6 patients with alterations of chromosome 18 and in 7 with marker chromosomes
• Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature
• Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters
• Identification of iso(18p) marker chromosome by fluorescence in situ hybridization with single-copy DNA probe
• Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p
• Isochromosome 18p in a mother and her child
• Isolation and fluorescence in situ hybridization mapping of 60 cosmid clones on human chromosome 18
• Low-level mosaic tetrasomy 18p at amniocentesis can be associated with a favorable pediatric outcome: The follow-ups of three consecutive cases
• Minimally invasive endoscopic fenestration of a spinal arachnoid cyst in a child with tetrasomy 18p: illustrative case
• Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin
• Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child
• Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos
• Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy
• Noninvasive prenatal testing aids identification of tetrasomy 18p: A case report
• Ophthalmic manifestations of tetrasomy 18p
• Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern
• Penile enlargement in tetrasomy 18p: an additional feature?
• Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism
• Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome
• Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads technology and single nucleotide polymorphism array
• Prenatal diagnosis of mosaic tetrasomy 18p
• Prenatal diagnosis of mosaicism for tetrasomy 18p: cytogenetic, fish and morphological findings
• Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques
• Progressive spastic paraplegia as a feature of tetrasomy 18p
• Psychiatric syndromes in individuals with chromosome 18 abnormalities
• Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service
• Sibs with tetrasomy 18p born to a mother with trisomy 18p
• Tetrasomy 18p Case Report
• Tetrasomy 18p caused by paternal meiotic nondisjunction
• Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing
• Tetrasomy 18p de novo: parental origin and different mechanisms of formation
• Tetrasomy 18p in a child with trisomy 18 phenotype
• Tetrasomy 18p in a male dysmorphic child in southeast Turkey
• Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses
• Tetrasomy 18p in two cases confirmation by in situ hybridization
• Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient
• Tetrasomy 18p syndrome and hearing loss. An unusual case
• Tetrasomy 18p: case report and review of literature
• Tetrasomy 18p: report of a case
• Tetrasomy 18p: report of cognitive and behavioral characteristics
• Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals
• Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test
• Tetrasomy of the short arm of human chromosome 18: cytogenetics and phenotypic disorders
• The Chromosome 18 Clinical Resource Center
• The clinical spectrum of a rare chromosomal abnormality: Isochromosome 18p
• The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization
• The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case
• Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation
• Two unique patients with trisomy 18 mosaicism and molecular marker studies
• Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications