aneuploidy
[/ˌæn.juːˈplɔɪ.di/ or /ˌæn.juːˈploɪ.di/]
nounfemininepl: aneuploidies
aneuploidia
1. An abnormal condition characterized by an imbalance in the number of chromosomes, where an organism has a number of chromosomes that is not a multiple of the haploid number
Down syndrome is caused by aneuploidy, specifically trisomy 21, where individuals have three copies of chromosome 21 instead of two.
A síndrome de Down é causada por aneuploidia, especificamente trissomia 21, onde os indivíduos têm três cópias do cromossomo 21 em vez de duas.
2. The presence of an abnormal number of chromosomes, resulting from nondisjunction during meiosis or mitosis
Aneuploidy can result in genetic disorders, developmental abnormalities, or reproductive difficulties.
A aneuploidia pode resultar em distúrbios genéticos, anomalias do desenvolvimento ou dificuldades reprodutivas.
This is primarily a scientific and medical terminology used uniformly across English-speaking and Portuguese-speaking medical communities. It is essential in genetic counseling, prenatal screening, and clinical diagnosis. The term is not subject to regional variations and maintains the same meaning in both Brazilian Portuguese and European Portuguese medical contexts.
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