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3q29 microdeletion syndrome

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3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. [1]

24 relations: Ashkenazi Jews, Ataxia, Autism, Base pair, BDH1, Chromosome 3, Deletion (genetics), DLG1, Dysmorphic feature, Genetic disorder, Homology (biology), Intellectual disability, Low copy repeats, Melanotransferrin, Microcephaly, Non-allelic homologous recombination, Nuclear cap-binding protein complex, PAK2, PCYT1A, Phenotype, Philtrum, RING finger domain, Schizophrenia, Transferrin receptor.

Ashkenazi Jews

Ashkenazi Jews, also known as Ashkenazic Jews or simply Ashkenazim (אַשְׁכְּנַזִּים, Ashkenazi Hebrew pronunciation:, singular:, Modern Hebrew:; also), are a Jewish diaspora population who coalesced in the Holy Roman Empire around the end of the first millennium.

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Ataxia

Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that includes gait abnormality.

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Autism

Autism is a developmental disorder characterized by troubles with social interaction and communication and by restricted and repetitive behavior.

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Base pair

A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.

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BDH1

D-beta-hydroxybutyrate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the BDH1 gene.

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Chromosome 3

Chromosome 3 is one of the 23 pairs of chromosomes in humans.

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Deletion (genetics)

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.

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DLG1

Discs large homolog 1 (DLG1), also known as synapse-associated protein 97 or SAP97, is a scaffold protein that in humans is encoded by the SAP97 gene.

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Dysmorphic feature

A dysmorphic feature is a difference of body structure.

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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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Homology (biology)

In biology, homology is the existence of shared ancestry between a pair of structures, or genes, in different taxa.

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Intellectual disability

Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.

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Low copy repeats

Low copy repeats (LCRs), also known as segmental duplications (SDs), are highly homologous sequence elements within the eukaryotic genome.

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Melanotransferrin

Melanotransferrin is a protein that in humans is encoded by the MFI2 gene.

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Microcephaly

Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.

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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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Nuclear cap-binding protein complex

Nuclear cap-binding protein complex is a RNA-binding protein which binds to the 5' cap of pre-mRNA.

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PAK2

Serine/threonine-protein kinase PAK 2 is an enzyme that in humans is encoded by the PAK2 gene.

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PCYT1A

Choline-phosphate cytidylyltransferase A is an enzyme that in humans is encoded by the PCYT1A gene.

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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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Philtrum

The philtrum (philtrum, φίλτρον philtron, lit. "love charm"), or medial cleft, is a vertical indentation in the middle area of the upper lip, common to many mammals, extending in humans from the nasal septum to the tubercle of the upper lip.

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RING finger domain

In molecular biology, a RING (Really Interesting New Gene) finger domain is a protein structural domain of zinc finger type which contains a C3HC4 amino acid motif which binds two zinc cations (seven cysteines and one histidine arranged non-consecutively).

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Schizophrenia

Schizophrenia is a mental disorder characterized by abnormal social behavior and failure to understand reality.

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Transferrin receptor

Transferrin receptor (TfR) is a carrier protein for transferrin.

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References

[1] https://en.wikipedia.org/wiki/3q29_microdeletion_syndrome

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