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21Q DELETION SYNDROME [1 record]
Record 1 - internal organization data 2023-04-25
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- monosomy 21
1, record 1, English, monosomy%2021
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- monosomy 21 syndrome 2, record 1, English, monosomy%2021%20syndrome
correct
- 21q- deletion syndrome 3, record 1, English, 21q%2D%20deletion%20syndrome
correct
- 21q- syndrome 4, record 1, English, 21q%2D%20syndrome
- antimongolism 5, record 1, English, antimongolism
obsolete, pejorative
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit. 4, record 1, English, - monosomy%2021
Record 1, Key term(s)
- 21q deletion syndrome
- 21q syndrome
- anti-mongolism
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- monosomie 21
1, record 1, French, monosomie%2021
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- syndrome de délétion 21q 2, record 1, French, syndrome%20de%20d%C3%A9l%C3%A9tion%2021q
correct, masculine noun
- syndrome 21q 2, record 1, French, syndrome%2021q
masculine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
La monosomie 21 est une anomalie chromosomique caractérisée par une délétion partielle variable d'un segment du bras long du chromosome 21, qui mène à un risque accru de malformations congénitales, de retard de développement et de déficit intellectuel. 2, record 1, French, - monosomie%2021
Record 1, Key term(s)
- syndrome de délétion 21q-
- syndrome 21q-
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas varias
- Genética
Record 1, Main entry term, Spanish
- síndrome de monosomía 21
1, record 1, Spanish, s%C3%ADndrome%20de%20monosom%C3%ADa%2021
correct, masculine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
- síndrome de monosomía del cromosoma 21 1, record 1, Spanish, s%C3%ADndrome%20de%20monosom%C3%ADa%20del%20cromosoma%2021
correct, masculine noun
- monosomía del cromosoma 21 2, record 1, Spanish, monosom%C3%ADa%20del%20cromosoma%2021
correct, feminine noun
- monosomía 21 3, record 1, Spanish, monosom%C3%ADa%2021
correct, feminine noun
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 CONT
El síndrome de monosomía del cromosoma 21 se diagnostica por la demostración de una deleción completa o parcial del cromosoma 21, es muy rara y la mayoría de los reportes involucran diferentes translocaciones, mosaicos, deleción parcial del brazo largo o anillos. Existe una marcada variabilidad clínica por lo cual se puede dificultar el diagnóstico. 1, record 1, Spanish, - s%C3%ADndrome%20de%20monosom%C3%ADa%2021
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