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9q34 deletion syndrome

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9q34 deletion syndrome, also known as Kleefstra syndrome, is a rare genetic disorder. [1]

15 relations: American Journal of Human Genetics, Chromosome 9, Comparative genomic hybridization, Developmental disability, Epilepsy, Fluorescence in situ hybridization, Genetic disorder, Histone methyltransferase, Hypoplasia, Hypotonia, Journal of Medical Genetics, Microcephaly, Mitral insufficiency, Mosaic (genetics), Multiplex ligation-dependent probe amplification.

American Journal of Human Genetics

The American Journal of Human Genetics is a monthly peer-reviewed scientific journal in the field of human genetics.

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Chromosome 9

Chromosome 9 is one of the 23 pairs of chromosomes in humans.

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Comparative genomic hybridization

Comparative genomic hybridization is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells.

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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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Epilepsy

Epilepsy is a group of neurological disorders characterized by epileptic seizures.

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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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Genetic disorder

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

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Histone methyltransferase

Histone methyltransferases (HMT) are histone-modifying enzymes (e.g., histone-lysine N-methyltransferases and histone-arginine N-methyltransferases), that catalyze the transfer of one, two, or three methyl groups to lysine and arginine residues of histone proteins.

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Hypoplasia

Hypoplasia (from Ancient Greek ὑπo- hypo-, "under" + πλάσις plasis, "formation"; adjective form hypoplastic) is underdevelopment or incomplete development of a tissue or organ.

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Hypotonia

Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.

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Journal of Medical Genetics

The Journal of Medical Genetics is a peer-reviewed medical journal focusing on human genetics.

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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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Mitral insufficiency

Mitral insufficiency (MI), mitral regurgitation or mitral incompetence is a disorder of the heart in which the mitral valve does not close properly when the heart pumps out blood.

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Mosaic (genetics)

In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg.

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Multiplex ligation-dependent probe amplification

Multiplex ligation-dependent probe amplification (MLPA) is a variation of the multiplex polymerase chain reaction that permits amplification of multiple targets with only a single primer pair.

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Redirects here:

Chromosome 9q deletion syndrome, Kleefstra syndrome.

References

[1] https://en.wikipedia.org/wiki/9q34_deletion_syndrome

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