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26 relations: Angelman syndrome, Chromosome, Chromosome 4, Chromosome 5, CPLX1, Cri du chat syndrome, Deletion (genetics), Epicanthic fold, Fibroblast growth factor receptor-like 1, Fluorescence in situ hybridization, Gamete, Genotype, LETM1, List of genetic disorders, Locus (genetics), Microcephaly, Microdeletion syndrome, Micrognathism, Mutation, Polyphagia, Prader–Willi syndrome, SLBP, Uniparental disomy, WHSC1, WHSC2, Wolf–Hirschhorn syndrome.
Angelman syndrome
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system.
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Chromosome
A chromosome (from Ancient Greek: χρωμόσωμα, chromosoma, chroma means colour, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism.
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Chromosome 4
Chromosome 4 is one of the 23 pairs of chromosomes in humans.
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Chromosome 5
Chromosome 5 is one of the 23 pairs of chromosomes in humans.
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CPLX1
Complexin-1 is a protein that in humans is encoded by the CPLX1 gene.
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Cri du chat syndrome
Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− syndrome (pronounced "five P minus") or Lejeune's syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5.
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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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Epicanthic fold
The epicanthic fold is the skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye.
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Fibroblast growth factor receptor-like 1
Fibroblast growth factor receptor-like 1 is a protein that in humans is encoded by the FGFRL1 gene.
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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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Gamete
A gamete (from Ancient Greek γαμετή gamete from gamein "to marry") is a haploid cell that fuses with another haploid cell during fertilization (conception) in organisms that sexually reproduce.
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Genotype
The genotype is the part of the genetic makeup of a cell, and therefore of an organism or individual, which determines one of its characteristics (phenotype).
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LETM1
Leucine zipper-EF-hand containing transmembrane protein 1 is a protein that in humans is encoded by the LETM1 gene.
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List of genetic disorders
The following is a list of genetic disorders and if known, type of mutation and the chromosome involved.
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Locus (genetics)
A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).
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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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Microdeletion syndrome
Microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb).
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Micrognathism
Micrognathism, also called micrognathia, strawberry chin, hypognathia or hypogthathism, is a condition where the jaw is undersized.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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Polyphagia
Polyphagia or hyperphagia is excessive hunger or increased appetite.
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Prader–Willi syndrome
Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes.
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SLBP
Histone RNA hairpin-binding protein or stem-loop binding protein (SLBP) is a protein that in humans is encoded by the SLBP gene.
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Uniparental disomy
Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent.
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WHSC1
Probable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the WHSC1 gene.
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WHSC2
Negative elongation factor A is a protein that in humans is encoded by the WHSC2 gene.
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Wolf–Hirschhorn syndrome
Wolf–Hirschhorn syndrome (WHS), also known as chromosome deletion Dillan 4p syndrome, Pitt–Rogers–Danks syndrome (PRDS) or Pitt syndrome, is a chromosomal deletion syndrome resulting from a partial deletion from the short arm of chromosome 4 (del(4p16.3)).
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Chromosomal deletion syndromes, Chromosome deletion, Deletion syndrome.
References
[1] https://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome
