22q11 2 duplication syndrome - definição. O que é 22q11 2 duplication syndrome. Significado, conceito
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O que (quem) é 22q11 2 duplication syndrome - definição

HUMAN DISEASE
DIDMOAD syndrome; Didmoad syndrome; Didmoad; Wolfram's syndrome; Wolfram syndrome 2
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22q11.2 duplication syndrome         
HUMAN DISEASE
22q11 duplication syndrome
22q11.2 duplication syndrome is a rare genetic disorder caused by a duplication of a segment at the end of chromosome 22.
7q11.23 duplication syndrome         
MEDICAL CONDITION
Draft:7q11.23 Duplication Syndrome; Dup7
7q11.23 duplication syndrome (also called dup7 or Duplication of the Williams-Beuren Syndrome Critical Region) is a rare genetic syndrome caused by micro-duplication of 1.
Gene duplication         
  • Evolutionary fate of duplicate genes
  • Karyotype}}
DUPLICATION OF A GENE SEQUENCE WITHIN A GENOME
Duplicate gene; Chromosomal duplication; Chromosomal duplications; Chromosome duplication; Chromosome duplications; Duplication (genetics); Ancient gene duplication; Amplification (molecular biology); Tandem duplications; Tandem duplication; Duplication (chromosomal); Retrogene; Nucleotide duplication
Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene.

Wikipédia

Wolfram syndrome

Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.

It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D. The disease affects the central nervous system (especially the brainstem).