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1q21.1 duplication syndrome

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1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1. [1]

52 relations: Affymetrix, ANKRD35, Ape, Attention deficit hyperactivity disorder, Autism, BCL9, Brain, CD160, CHD1L, Chromosomal inversion, Chromosomal translocation, Chromosome 1, Chromosome 16, Chromosome 22, Copy-number variation, Deletion (genetics), DiGeorge syndrome, Dominance (genetics), DUF1220, Fluorescence in situ hybridization, FMO5, Gene duplication, GJA5, GJA8, GPR89B, Hemojuvelin, Hypertelorism, Integrin alpha 10, LIX1L, Lysophosphatidic acid phosphatase type 6, Macrocephaly, Mammal, Meiosis, Microcephaly, Neocortex, Neuron, NUDT17, PDZK1, PEX11B, Phenotype, PIAS3, POLR3C, POLR3GL, PRKAB2, Protein, RBM8A, Schizophrenia, Tetralogy of Fallot, TXNIP, ZNF364, ..., 1q21.1 deletion syndrome, 22q13 deletion syndrome. Expand index (2 more) »

Affymetrix

Affymetrix, Inc. was an American company that manufactured DNA microarrays; it was based in Santa Clara, California, United States.

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ANKRD35

Ankyrin repeat domain 35 also known as ANKRD35 is a protein which in humans is encoded by the ANKRD35 gene.

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Ape

Apes (Hominoidea) are a branch of Old World tailless anthropoid primates native to Africa and Southeast Asia.

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Attention deficit hyperactivity disorder

Attention-deficit hyperactivity disorder (ADHD) is a mental disorder of the neurodevelopmental type.

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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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BCL9

B-cell CLL/lymphoma 9 protein is a protein that in humans is encoded by the BCL9 gene.

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Brain

The brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals.

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CD160

CD160 antigen is a protein that in humans is encoded by the CD160 gene.

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CHD1L

Chromodomain-helicase-DNA-binding protein 1-like (ALC1) is an enzyme that in humans is encoded by the CHD1L gene.

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Chromosomal inversion

An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end.

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Chromosomal translocation

In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.

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Chromosome 1

Chromosome 1 is the designation for the largest human chromosome.

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Chromosome 16

Chromosome 16 is one of the 23 pairs of chromosomes in humans.

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Chromosome 22

Chromosome 22 is one of the 23 pairs of chromosomes in human cells.

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Copy-number variation

Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals in the human population.

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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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DiGeorge syndrome

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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DUF1220

DUF1220 is a protein domain that shows a striking human lineage-specific (HLS) increase in copy number and may be important to human brain evolution.

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Fluorescence in situ hybridization

Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only those parts of the chromosome with a high degree of sequence complementarity.

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FMO5

Dimethylaniline monooxygenase 5 is an enzyme that in humans is encoded by the FMO5 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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GJA5

Gap junction alpha-5 protein (GJA5), also known as connexin 40 (Cx40) — is a protein that in humans is encoded by the GJA5 gene.

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GJA8

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene.

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GPR89B

Protein GPR89 is a protein that in humans is encoded by the GPR89B gene.

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Hemojuvelin

Hemojuvelin (HJV), also known as repulsive guidance molecule C (RGMc) or hemochromatosis type 2 protein (HFE2), is a membrane-bound and soluble protein in mammals that is responsible for the iron overload condition known as juvenile hemochromatosis in humans, a severe form of hemochromatosis.

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Hypertelorism

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism.

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Integrin alpha 10

Integrin alpha-10 also known as ITGA10 is a protein that in humans is encoded by the ITGA10 gene.

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LIX1L

Lix1 homolog (mouse)-like also known as LIX1L is a protein which in humans is encoded by the LIX1L gene.

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Lysophosphatidic acid phosphatase type 6

Lysophosphatidic acid phosphatase type 6 is an acid phosphatase enzyme that is encoded in humans by the ACP6 gene.

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Macrocephaly

Macrocephaly is a condition in which the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.

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Mammal

Mammals are the vertebrates within the class Mammalia (from Latin mamma "breast"), a clade of endothermic amniotes distinguished from reptiles (including birds) by the possession of a neocortex (a region of the brain), hair, three middle ear bones, and mammary glands.

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Meiosis

Meiosis (from Greek μείωσις, meiosis, which means lessening) is a specialized type of cell division that reduces the chromosome number by half, creating four haploid cells, each genetically distinct from the parent cell that gave rise to them.

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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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Neocortex

The neocortex, also called the neopallium and isocortex, is the part of the mammalian brain involved in higher-order brain functions such as sensory perception, cognition, generation of motor commands, spatial reasoning and language.

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Neuron

A neuron, also known as a neurone (British spelling) and nerve cell, is an electrically excitable cell that receives, processes, and transmits information through electrical and chemical signals.

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NUDT17

Nudix hydrolase 17 is a protein that in humans is encoded by the NUDT17 gene.

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PDZK1

Na(+)/H(+) exchange regulatory cofactor NHE-RF3 is a protein that in humans is encoded by the PDZK1 gene.

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PEX11B

Peroxisomal membrane protein 11B is a protein that in humans is encoded by the PEX11B 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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PIAS3

E3 SUMO-protein ligase PIAS3 is an enzyme that in humans is encoded by the PIAS3 gene.

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POLR3C

DNA-directed RNA polymerase III subunit RPC3 is an enzyme that in humans is encoded by the POLR3C gene.

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POLR3GL

Polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like also known as POLR3GL is a protein which in humans is encoded by the POLR3GL gene.

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PRKAB2

5'-AMP-activated protein kinase subunit beta-2 is an enzyme that in humans is encoded by the PRKAB2 gene.

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Protein

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.

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RBM8A

RNA-binding protein 8A is a protein that in humans is encoded by the RBM8A gene.

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Schizophrenia

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

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Tetralogy of Fallot

Tetralogy of Fallot (TOF) is a type of heart defect present at birth.

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TXNIP

Thioredoxin-interacting protein is a protein that in humans is encoded by the TXNIP gene.

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ZNF364

RING finger protein 115 is a protein that in humans is encoded by the RNF115 gene.

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1q21.1 deletion syndrome

1q21.1 deletion syndrome or 1q21.1 (recurrent) microdeletion is a rare aberration of chromosome 1.

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22q13 deletion syndrome

22q13 deletion syndrome (spoken as twenty-two q one three, see Locus (genetics)) is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22.

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1q21.1 microduplication.

References

[1] https://en.wikipedia.org/wiki/1q21.1_duplication_syndrome

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