Reference for ISODISOMY. Search for ISODISOMY

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ISODISOMY

Uniparental disomy

Inheritance of two copies of one parent's chromosome

either isodisomy or heterodisomy can disrupt parent-specific genomic imprinting, resulting in imprinting disorders. Additionally, isodisomy leads to

Uniparental disomy

Uniparental_disomy

Isodisomy

Erroneous duplication of one parent's chromosome during meiosis

Isodisomy is a form of uniparental disomy in which both copies of a chromosome, or parts of it, are inherited from the same parent. It differs from heterodisomy

Isodisomy

Inbreeding

Reproduction by closely related organisms

Animation of uniparental isodisomy

Inbreeding

Fumarase deficiency

Rare disease

parents who were first cousins. It can also be associated with uniparental isodisomy. Fumarase deficiency is extremely rare – until around 1990 there had only

Fumarase deficiency

Fumarase_deficiency

Uveal melanoma

Type of eye cancer

of the chromosome to return to a disomic state referred to as isodisomy. Thus, isodisomy 3 is prognostically equivalent to monosomy 3, and both can be

Uveal melanoma

Uveal_melanoma

Runs of homozygosity

important enough to report. Large ROH can be indicative of uniparental isodisomy with follow-up testing to rule out false positives, there is currently

Runs of homozygosity

Runs_of_homozygosity

MERTK

Protein-coding gene in humans

Jacobson SG, Gal A (January 2002). "Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65

MERTK

Laminin subunit gamma-2

Protein-coding gene in the species Homo sapiens

Chao SC, et al. (2000). "Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis

Laminin subunit gamma-2

Laminin_subunit_gamma-2

List of Greek and Latin roots in English/P–Z

heterochromosome, heterodisomic, heterodisomy, hexasomy, isodisomic, isodisomy, macrosomia, metasomatic, metasomatism, microsome, microsomia, monosome

List of Greek and Latin roots in English/P–Z

List_of_Greek_and_Latin_roots_in_English/P–Z

Bamforth–Lazarus syndrome

Medical condition

an unprecedented case of FOXE1 variants of homozygosity from maternal isodisomy was reported by Castanet and colleagues of a German girl with similar

Bamforth–Lazarus syndrome

Bamforth–Lazarus_syndrome

Malonic aciduria

Medical condition

mutation which eventually leads to malonic aciduria is caused by the isodisomy of maternal UPD. This indicates that such disease is likely to be inherited

Malonic aciduria

Malonic_aciduria

Arrhythmogenic cardiomyopathy

Medical condition

associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy". Journal of Molecular and Cellular Cardiology. 141: 17–29. doi:10.1016/j

Arrhythmogenic cardiomyopathy

Arrhythmogenic_cardiomyopathy

MT-TP

Mitochondrial transfer RNA

J, Mabuchi H (August 1999). "Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the

MT-TP

List of Greek and Latin roots in English/S

heterochromosome, heterodisomic, heterodisomy, hexasomy, isodisomic, isodisomy, macrosomia, metasomatic, metasomatism, microsome, microsomia, monosome

List of Greek and Latin roots in English/S

List_of_Greek_and_Latin_roots_in_English/S

Raine syndrome

Osteosclerotic bone dysplasia, a congenital disorder

that to date, effected individuals have had chromosome 7 uniparental isodisomy and a 7p telomeric microdeletion. They had abnormal chromosome 7 arrangements

Raine syndrome

Raine_syndrome

Donnai–Barrow syndrome

Medical condition

with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy". American Journal of Medical Genetics Part A. 146A (14): 1842–7. doi:10

Donnai–Barrow syndrome

Donnai–Barrow_syndrome

USH2A

Protein-coding gene in the species Homo sapiens

EL, Dryja TP (2002). "Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing

USH2A

RPE65

Protein-coding gene in humans

Schwinger E, et al. (January 2002). "Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65

RPE65

Cyclic nucleotide gated channel beta 3

Protein-coding gene in the species Homo sapiens

Pentao L, Lewis RA, Ledbetter DH, et al. (1992). "Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy"

Cyclic nucleotide gated channel beta 3

Cyclic_nucleotide_gated_channel_beta_3

Virtual karyotype

Digital information reflecting an individual's karyotype

copy of the chromosome to return to a disomic state referred to as isodisomy. Isodisomy 3 is prognostically equivalent to monosomy 3, and both can be detected

Virtual karyotype

Virtual_karyotype

Mesoderm-specific transcript homolog protein

Mammalian protein found in Homo sapiens

Bedeschi MF, Cogliati F, et al. (2000). "Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression". Clin. Dysmorphol

Mesoderm-specific transcript homolog protein

Mesoderm-specific_transcript_homolog_protein

DSC2

Protein-coding gene in humans

associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy". Journal of Molecular and Cellular Cardiology. 141: 17–29. doi:10.1016/j

DSC2

IDDM11

Insulin-dependent (type I) diabetes mellitus

3–q31. Genomics, 1996. 33(1): p. 1-8. Kayashima, T., et al., Maternal isodisomy for 14q21‐q24 in a man with diabetes mellitus. American journal of medical

IDDM11