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8p23.1 duplication syndrome

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8p23.1 duplication syndrome is a rare genetic disorder caused by a duplication of a region from human chromosome 8. [1]

23 relations: Chromosome 8, Congenital heart defect, Crohn's disease, Defensin, Developmental disability, Diad, Diaphragmatic hernia, Dysmorphic feature, European Journal of Human Genetics, GATA4, Gene duplication, Genetic disorder, Molecular Cytogenetics, Neurology, Non-allelic homologous recombination, Olfactory receptor, Phenotype, Proband, Psoriasis, SOX gene family, Speech delay, Syndactyly, TNKS.

Chromosome 8

Chromosome 8 is one of the 23 pairs of chromosomes in humans.

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Congenital heart defect

A congenital heart defect (CHD), also known as a congenital heart anomaly or congenital heart disease, is a problem in the structure of the heart that is present at birth.

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Crohn's disease

Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any part of the gastrointestinal tract from mouth to anus.

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Defensin

Defensins are small cysteine-rich cationic proteins found in both vertebrates and invertebrates.

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Developmental disability

Developmental disability is a diverse group of chronic conditions that are due to mental or physical impairments that arise before adulthood.

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Diad

The diad is a structure in the cardiac myocyte located at the sarcomere Z-line.

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Diaphragmatic hernia

Diaphragmatic hernia is a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity.

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Dysmorphic feature

A dysmorphic feature is a difference of body structure.

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European Journal of Human Genetics

The European Journal of Human Genetics is a monthly peer-reviewed scientific journal published by the Nature Publishing Group on behalf of the European Society of Human Genetics.

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GATA4

Transcription factor GATA-4 is a protein that in humans is encoded by the GATA4 gene.

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Gene duplication

Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Molecular Cytogenetics

Molecular Cytogenetics is a continuous, open access, peer-reviewed journal covering research into cytogenetics and its applications throughout the fields of biology and medicine.

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Neurology

Neurology (from νεῦρον (neûron), "string, nerve" and the suffix -logia, "study of") is a branch of medicine dealing with disorders of the nervous system.

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Non-allelic homologous recombination

Non-allelic homologous recombination (NAHR) is a form of homologous recombination that occurs between two lengths of DNA that have high sequence similarity, but are not alleles.

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Olfactory receptor

Olfactory receptors (ORs), also known as odorant receptors, are expressed in the cell membranes of olfactory receptor neurons and are responsible for the detection of odorants (i.e., compounds that have an odor) which give rise to the sense of smell.

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Phenotype

A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).

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Proband

In medical genetics and other medical fields, a proband, proposito (male proband), or proposita (female proband) is a particular subject (person or animal) being studied or reported on.

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Psoriasis

Psoriasis is a long-lasting autoimmune disease characterized by patches of abnormal skin.

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SOX gene family

SOX genes encode a family of transcription factors that bind to the minor groove in DNA, and belong to a super-family of genes characterized by a homologous sequence called the HMG-box (for high mobility group).

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Speech delay

Speech delay, also known as alalia, refers to a delay in the development or use of the mechanisms that produce speech.

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Syndactyly

Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together.

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TNKS

Tankyrase-1 is an enzyme that in humans is encoded by the TNKS gene.

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References

[1] https://en.wikipedia.org/wiki/8p23.1_duplication_syndrome

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