Chromosomal Abnormality Syndromes and Genetic Diseases /
Down syndrome, or Down's syndrome (primarily in the United Kingdom), trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was identif...
| Main Authors: | , |
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| Format: | software, multimedia |
| Language: | eng |
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Delhi, India : College Publishing House:
2012
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| Subjects: | |
| Online Access: | http://repository.library.utm.my/id/eprint/3749 |
| _version_ | 1796763787881086976 |
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| author | Frasier, Jan, author 648258 Durkin, Ingeborg, author 647979 |
| author_facet | Frasier, Jan, author 648258 Durkin, Ingeborg, author 647979 |
| author_sort | Frasier, Jan, author 648258 |
| collection | OCEAN |
| description | Down syndrome, or Down's syndrome (primarily in the United Kingdom), trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959. Down syndrome in a fetus can be identified with amniocentesis (with risks of fetal injury and / or miscarriage) during pregnancy, or in a baby at birth. A Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents (both mothers and fathers) due to increased mutagenic exposures upon some older parents' reproductive cells (however, many older parents produce children without the conditions). Other factors may also play a role. Down syndrome occurs in all human populations, and analogous effects have been found in other species such as chimpanzees and mice. |
| first_indexed | 2024-03-05T17:00:51Z |
| format | software, multimedia |
| id | KOHA-OAI-TEST:598623 |
| institution | Universiti Teknologi Malaysia - OCEAN |
| language | eng |
| last_indexed | 2024-03-05T17:00:51Z |
| publishDate | 2012 |
| publisher | Delhi, India : College Publishing House: |
| record_format | dspace |
| spelling | KOHA-OAI-TEST:5986232023-11-15T04:50:27ZChromosomal Abnormality Syndromes and Genetic Diseases / Frasier, Jan, author 648258 Durkin, Ingeborg, author 647979 software, multimedia Electronic books 631902 Delhi, India : College Publishing House:2012©2012engDown syndrome, or Down's syndrome (primarily in the United Kingdom), trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959. Down syndrome in a fetus can be identified with amniocentesis (with risks of fetal injury and / or miscarriage) during pregnancy, or in a baby at birth. A Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents (both mothers and fathers) due to increased mutagenic exposures upon some older parents' reproductive cells (however, many older parents produce children without the conditions). Other factors may also play a role. Down syndrome occurs in all human populations, and analogous effects have been found in other species such as chimpanzees and mice.Down syndrome, or Down's syndrome (primarily in the United Kingdom), trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959. Down syndrome in a fetus can be identified with amniocentesis (with risks of fetal injury and / or miscarriage) during pregnancy, or in a baby at birth. A Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents (both mothers and fathers) due to increased mutagenic exposures upon some older parents' reproductive cells (however, many older parents produce children without the conditions). Other factors may also play a role. Down syndrome occurs in all human populations, and analogous effects have been found in other species such as chimpanzees and mice.Genetic disordershttp://repository.library.utm.my/id/eprint/3749URN:ISBN:9788132313809Remote access restricted to users with a valid UTM ID via VPN. |
| spellingShingle | Genetic disorders Frasier, Jan, author 648258 Durkin, Ingeborg, author 647979 Chromosomal Abnormality Syndromes and Genetic Diseases / |
| title | Chromosomal Abnormality Syndromes and Genetic Diseases / |
| title_full | Chromosomal Abnormality Syndromes and Genetic Diseases / |
| title_fullStr | Chromosomal Abnormality Syndromes and Genetic Diseases / |
| title_full_unstemmed | Chromosomal Abnormality Syndromes and Genetic Diseases / |
| title_short | Chromosomal Abnormality Syndromes and Genetic Diseases / |
| title_sort | chromosomal abnormality syndromes and genetic diseases |
| topic | Genetic disorders |
| url | http://repository.library.utm.my/id/eprint/3749 |
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