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DCR Down syndrome chromosome region [ Homo sapiens (human) ]

Gene ID: 1637, updated on 17-Aug-2024

Summary

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Official Symbol
DCRprovided by HGNC
Official Full Name
Down syndrome chromosome regionprovided by HGNC
Primary source
HGNC:HGNC:2708
See related
MIM:190685
Gene type
other
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DSCR
Summary
Down syndrome, also known as trisomy 21, is the most frequent form of cognitive disability caused by a microscopically demonstrable chromosomal aberration. It is caused by a third copy (trisomy) of all or a critical portion of chromosome 21. Down syndrome is characterized by physical growth delays, dysmorphic facial features, heart and gastrointestinal disorders, and mild to moderate cognitive disability. [provided by RefSeq, Jul 2017]
Annotation information
not in current annotation release
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Genomic context

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Location:
21q22.3

Bibliography

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Related articles in PubMed

  1. Protocols to establish genotype-phenotype correlations in Down syndrome. Epstein CJ, et al. Am J Hum Genet, 1991 Jul. PMID 1829580, Free PMC Article
  2. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953

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