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DEFICIENCIA GENETICA [1 record]
Record 1 - internal organization data 2008-10-28
Record 1, English
Record 1, Subject field(s)
- Genetics
Record 1, Main entry term, English
- genetic defect
1, record 1, English, genetic%20defect
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 OBS
"Genetic defect" is a broad term. It indicates that the condition has an etiology in the genes or chromosomes. 2, record 1, English, - genetic%20defect
Record 1, French
Record 1, Domaine(s)
- Génétique
Record 1, Main entry term, French
- défaut génétique
1, record 1, French, d%C3%A9faut%20g%C3%A9n%C3%A9tique
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Anomalie qui se manifeste sur un gène ou un chromosome. 2, record 1, French, - d%C3%A9faut%20g%C3%A9n%C3%A9tique
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Genética
Record 1, Main entry term, Spanish
- anomalía genética
1, record 1, Spanish, anomal%C3%ADa%20gen%C3%A9tica
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
- defecto genético 2, record 1, Spanish, defecto%20gen%C3%A9tico
correct, masculine noun
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Alteración que sufre un gen, debido a una mutación cromosómica la cual cambia su función. 3, record 1, Spanish, - anomal%C3%ADa%20gen%C3%A9tica
Record number: 1, Textual support number: 1 CONT
Es una anomalía genética debida a una alteración cromosómica. Como consecuencia de dicha anomalía se produce un conjunto de manifestaciones clínicas que confiere a las personas con síndrome de Down un aspecto característico. 4, record 1, Spanish, - anomal%C3%ADa%20gen%C3%A9tica
Record number: 1, Textual support number: 2 CONT
¿Qué significa una anomalía genética? Quiere decir que un gen ha sido modificado por un tipo de accidente llamado "mutación". Esta mutación cambia la función del gen implicado, lo que produce una información errónea que origina la enfermedad. 5, record 1, Spanish, - anomal%C3%ADa%20gen%C3%A9tica
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