Ring 18 molecular assessment and clinical consequences. 2015

Erika Carter, and Patricia Heard, and Minire Hasi, and Bridgette Soileau, and Courtney Sebold, and Daniel E Hale, and Jannine D Cody
Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas.

Ring chromosome 18 is a rare condition which has predominantly been described by case reports and small case series. We assessed a cohort of 30 individuals with ring 18 using both microarray comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH). We determined that each participant had a unique combination of hemizygosity for the p and q arms. Four ring chromosomes had no detectable deletion of one of the chromosome arms using aCGH. However, two of these ring chromosomes had telomeric sequences detected using FISH. These data confirm the importance of molecular and cytogenetic analysis to determine both chromosome content and morphology. We failed to find dramatic changes in mosaicism percentage between cytogenetic measurements made at the time of diagnosis and those made years later at the time of this study, demonstrating that dynamic ring mosaicism is unlikely to be a major cause of phenotypic variability in the ring 18 population. Lastly, we present data on the clinical features present in our cohort, though the extreme genotypic variability makes it impossible to draw direct genotype-phenotype correlations. Future work will focus on determining the role of specific hemizygous genes in order to create individualized projections of the effect of each person's specific ring 18 compliment.

UI MeSH Term Description Entries
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002887 Chromosomes, Human, Pair 18 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 18
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001519 Behavior The observable response of a man or animal to a situation. Acceptance Process,Acceptance Processes,Behaviors,Process, Acceptance,Processes, Acceptance
D012303 Ring Chromosomes Aberrant chromosomes with no ends, i.e., circular. Chromosomes, Ring,Chromosome, Ring,Ring Chromosome
D055028 Comparative Genomic Hybridization A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations. Array Comparative Genomic Hybridization,Array-Based Comparative Genomic Hybridization,Comparative Genome Hybridization,Array Based Comparative Genomic Hybridization,Comparative Genome Hybridizations,Comparative Genomic Hybridizations,Genome Hybridization, Comparative,Genome Hybridizations, Comparative,Genomic Hybridization, Comparative,Genomic Hybridizations, Comparative,Hybridization, Comparative Genome,Hybridization, Comparative Genomic,Hybridizations, Comparative Genome,Hybridizations, Comparative Genomic
D019457 Chromosome Breakage A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION. Chromosomal Breakage,Chromosomal Breaks,Chromosome Breaks,Break, Chromosomal,Break, Chromosome,Breakage, Chromosomal,Breakage, Chromosome,Breakages, Chromosomal,Breakages, Chromosome,Breaks, Chromosomal,Breaks, Chromosome,Chromosomal Break,Chromosomal Breakages,Chromosome Break,Chromosome Breakages
D020732 Cytogenetic Analysis Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed. Cytogenetic Techniques,Molecular Cytogenetic Techniques,Cytogenetic Technics,Molecular Cytogenetic Technics,Analyses, Cytogenetic,Analysis, Cytogenetic,Cytogenetic Analyses,Cytogenetic Technic,Cytogenetic Technic, Molecular,Cytogenetic Technics, Molecular,Cytogenetic Technique,Cytogenetic Technique, Molecular,Cytogenetic Techniques, Molecular,Molecular Cytogenetic Technic,Molecular Cytogenetic Technique,Technic, Cytogenetic,Technic, Molecular Cytogenetic,Technics, Cytogenetic,Technics, Molecular Cytogenetic,Technique, Cytogenetic,Technique, Molecular Cytogenetic,Techniques, Cytogenetic,Techniques, Molecular Cytogenetic

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