Chromosomal Abnormalities
32 entries in the Chromosomal Abnormalities compendium.
Anaphase lagA cell division error causing aneuploidy through chromosome loss.AneuploidyAneuploidy is an abnormal chromosome number causing genetic disorders and cancer.Breakage-fusion-bridge cycleA mechanism of chromosomal instability discovered by Barbara McClintock.ChromoplexyComplex DNA rearrangements linking multiple chromosomes in cancer.Chromosomal inversionA chromosome segment reversed end to end within its original position.Chromosome instabilityElevated rate of chromosome gain or loss driving aneuploidy.ChromothripsisA single catastrophic event shatters chromosomes, driving cancer and congenital disease.Contiguous gene syndromeA deletion or duplication of adjacent genes causing a combined phenotype.Diploid-triploid mosaicismA mosaic disorder with diploid and triploid cells.Emanuel syndromeRare disorder from extra genetic material on chromosomes 11 and 22.Fryns–Aftimos syndromeRare chromosomal disorder with pachygyria and characteristic facial features.Ischiopatellar dysplasiaRare bone disorder with patellar and pelvic anomalies.Kagami–Ogata syndromeRare genetic disorder from maternal chromosome 14 mutations or paternal UPD(14).KMT2A rearrangementsChromosomal translocations creating fusion proteins in leukemias and other cancers.Marker chromosomeA small supernumerary chromosome fragment of variable clinical significance.MonosomyMonosomy is aneuploidy with one chromosome from a pair.Mosaic loss of chromosome YAcquired Y chromosome loss in aging males linked to disease risk.Nuclear protein in testis geneGene essential for male fertility and linked to NUT carcinoma.Pallister–Killian syndromeRare genetic disorder from extra copies of chromosome 12p.Patau syndromeA severe chromosomal disorder caused by trisomy 13.PolysomyPolysomy is an aneuploid condition with extra chromosome copies.Chromosomal rearrangementStructural chromosome abnormality from DNA breakage and rejoining.Ring chromosomeA chromosome whose ends fuse to form a ring.Ring chromosome 15A rare ring chromosome disorder with variable symptoms.Ring chromosome 18A ring-shaped chromosome 18 causes varied developmental and medical issues.Robertsonian translocationFusion of two acrocentric chromosomes at the centromere.Small supernumerary marker chromosomeAn extra chromosome fragment linked to birth defects and neoplasms.Structural variationStructural variation accounts for most raw genetic differences between humans.Temple syndromeA rare disorder from paternal chromosome 14 mutations or maternal UPD(14).TrisomyA condition with three copies of one chromosome instead of two.Trisomy 18A genetic disorder caused by an extra copy of chromosome 18.XX male syndromeA rare condition where an XX individual develops a male phenotype.
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