Aneuploidy
Definition
A numerical genetic anomaly consisting of a change in the normal number of chromosomes within a cell or organism, through the loss or gain of one or more chromosomes from the basic diploid set. This structural phenomenon usually occurs as a result of chromosome nondisjunction during meiosis or mitosis and represents a major cause of severe phenotypic developmental disorders and spontaneous abortions.
Bilingual Equivalents
- Aneuploidy
Grammatical & Source Details
| Inflection Type | Feminine noun, regular structural plural variations, distinct Genitive-Dative forms. |
| Formation | Neoclassical compound borrowed from French ('aneuploïdie'), functionally stabilized in medical terminology. |
| Spelling / Pronunciation | [a.neu.ploi.ˈdi.e] |
| Source | Handbook of Medical Cytogenetics and Molecular Biology Standards |
Contextual Usage Examples
RO: Testarea prenatală neinvazivă este utilizată la scară largă pentru a depista o eventuală aneuploidie fetală încă din primul trimestru.
EN: Non-invasive prenatal testing is widely used to screen for potential fetal aneuploidy as early as the first trimester.
RO: Această aneuploidie severă a fost identificată în laborator prin realizarea cariotipului celulelor recoltate prin amniocenteză.
EN: This severe aneuploidy was identified in the laboratory by performing the karyotype of cells collected through amniocentesis.
RO: O aneuploidie la nivelul cromozomilor sexuali, cum este sindromul Klinefelter, are adesea manifestări clinice mai blânde.
EN: An aneuploidy involving the sex chromosomes, such as Klinefelter syndrome, often has milder clinical manifestations.
Idioms & Phrases
Aneuploidie autozomală / Autosomal aneuploidy
RO: Modificare numerică ce afectează cromozomii somatici non-sexuali, determinând afecțiuni precum trisomia treisprezece.
EN: A numerical alteration affecting non-sex somatic chromosomes, leading to conditions such as trisomy thirteen.
Aneuploidie de nondisjuncție / Nondisjunction aneuploidy
RO: Eroare structurală generată de eșecul separării corecte a perechilor omoloage în timpul diviziunii celulare meiotice.
EN: A structural error generated by the failure of homologous pairs to separate correctly during meiotic cell division.
Risc de aneuploidie / Aneuploidy risk
RO: Probabilitate statistică de apariție a unei anomalii cromozomiale, care crește semnificativ în raport cu vârsta maternă înaintată.
EN: Statistical probability of a chromosomal anomaly occurring, which increases significantly in relation to advanced maternal age.
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