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Scienza Medica - Test genetico e prenatale

Qui imparerai alcune parole in inglese relative ai test genetici e prenatali, come "cariotipo", "cordocentesi" e "cromosoma".

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a genetic test that identifies mutations in the BRCA1 and BRCA2 genes, which are associated with an increased risk of breast and ovarian cancers

test genetico per il cancro al seno, test dei geni BRCA1 e BRCA2

test genetico per il cancro al seno, test dei geni BRCA1 e BRCA2

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a gene associated with increased risk of breast and ovarian cancers due to mutations, making it important in cancer genetics and testing

gene del cancro al seno 1, gene BRCA1

gene del cancro al seno 1, gene BRCA1

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a gene linked to increased risk of breast and ovarian cancers due to mutations, important in cancer genetics and testing

gene del cancro al seno 2, gene BRCA2

gene del cancro al seno 2, gene BRCA2

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carrier screening
[sostantivo]

genetic testing to identify individuals who carry gene mutations for certain conditions, informing reproductive decision-making

screening dei portatori, test genetico dei portatori

screening dei portatori, test genetico dei portatori

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karyotype test
[sostantivo]

a laboratory test that examines an individual's chromosomes to detect genetic abnormalities such as chromosomal disorders and syndromes

test del cariotipo, analisi del cariotipo

test del cariotipo, analisi del cariotipo

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a gene associated with increased risk of health conditions such as cardiovascular disease, neural tube defects, and psychiatric disorders due to specific mutations

metilentetraidrofolato reduttasi, reduttasi del metilentetraidrofolato

metilentetraidrofolato reduttasi, reduttasi del metilentetraidrofolato

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gene
[sostantivo]

(genetics) a basic unit of heredity and a sequence of nucleotides in DNA that is located on a chromosome in a cell and controls a particular quality

gene

gene

Ex: The study revealed that some genes could influence intelligence .Lo studio ha rivelato che alcuni **geni** potrebbero influenzare l'intelligenza.
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DNA
[sostantivo]

(biochemistry) a chemical substance that carries the genetic information, which is present in every cell and some viruses

DNA

DNA

Ex: DNA contains the instructions for building proteins in the body .Il **DNA** contiene le istruzioni per costruire le proteine nel corpo.
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chromosome
[sostantivo]

a very small threadlike structure in a living organism that carries the genes and genetic information

cromosoma

cromosoma

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a genetic change that can affect chromosome structure or number, leading to variations in gene expression and potential genetic disorders

mutazione cromosomica, alterazione cromosomica

mutazione cromosomica, alterazione cromosomica

Ex: Certain cancers may be linked to chromosomal mutations, influencing disease progression .Alcuni tumori possono essere legati a **mutazioni cromosomiche**, influenzando la progressione della malattia.
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MTHFR gene test
[sostantivo]

a genetic test that identifies mutations in the MTHFR gene to assess an individual's risk for health conditions

test genetico MTHFR, analisi del gene MTHFR

test genetico MTHFR, analisi del gene MTHFR

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a type of genetic testing that analyzes an individual's genetic makeup to assess how their genes may impact their response to certain medications

test farmacogenetico, analisi farmacogenetica

test farmacogenetico, analisi farmacogenetica

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PTEN gene
[sostantivo]

a tumor suppressor gene associated with increased cancer risk due to mutations, important in cancer genetics and testing

gene PTEN, gene soppressore del tumore PTEN

gene PTEN, gene soppressore del tumore PTEN

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PTEN genetic test
[sostantivo]

a genetic test identifies mutations in the PTEN gene to assess an individual's risk for associated conditions such as cancers and other health conditions

test genetico PTEN, analisi genetica del gene PTEN

test genetico PTEN, analisi genetica del gene PTEN

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a tumor suppressor gene associated with increased cancer risk due to mutations, important in cancer genetics and testing

gene della proteina P53 soppressore del tumore, gene soppressore del tumore P53

gene della proteina P53 soppressore del tumore, gene soppressore del tumore P53

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a genetic test that identifies mutations in the TP53 gene to assess an individual's risk for associated conditions such as cancers and other health conditions

test genetico della proteina tumorale P53, analisi genetica della proteina P53

test genetico della proteina tumorale P53, analisi genetica della proteina P53

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protein molecule
[sostantivo]

a complex biological structure essential for cellular functions in living organisms, made up of amino acid chains

molecola proteica, proteina

molecola proteica, proteina

Ex: Protein molecules act as messengers , transmitting signals within cells .Le **molecole proteiche** agiscono come messaggeri, trasmettendo segnali all'interno delle cellule.
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karyotype
[sostantivo]

a visual display of an individual's chromosomes, used for genetic analysis and identifying abnormalities

cariotipo, profilo cromosomico

cariotipo, profilo cromosomico

Ex: A normal karyotype consists of pairs of chromosomes in a specific order .Un **cariotipo** normale consiste in coppie di cromosomi in un ordine specifico.
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genetic testing on embryos during IVF to screen for genetic conditions or abnormalities prior to implantation

test genetico preimpianto, diagnosi genetica preimpianto

test genetico preimpianto, diagnosi genetica preimpianto

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amniocentesis
[sostantivo]

a test to check the baby's health by taking a small amount of fluid from around the baby before birth

amniocentesi, puntura amniotica

amniocentesi, puntura amniotica

Ex: Amniocentesis is a safe and routine test performed during pregnancy .L'**amniocentesi** è un test sicuro e di routine eseguito durante la gravidanza.
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a test done during pregnancy that involves taking a small sample of tissue from the developing pregnancy to check for genetic issues in the baby

prelievo dei villi coriali, biopsia coriale

prelievo dei villi coriali, biopsia coriale

Ex: Chorionic villus sampling is typically performed in the first trimester of pregnancy .Il **prelievo dei villi coriali** viene tipicamente eseguito nel primo trimestre di gravidanza.
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a specialized ultrasound examination that assesses the heart of a developing fetus in utero for any potential structural or functional abnormalities

ecocardiografia fetale, esame ecocardiografico fetale

ecocardiografia fetale, esame ecocardiografico fetale

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a medical imaging technique used to visualize the developing fetus, assess fetal growth, identify abnormalities, and evaluate maternal reproductive organs during pregnancy

ecografia ostetrica, ultrasuono ostetrico

ecografia ostetrica, ultrasuono ostetrico

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a prenatal blood test that assesses the risk of chromosomal disorders in the fetus by measuring four markers in the mother's blood

screening quadruplo, test quadruplo

screening quadruplo, test quadruplo

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a non-invasive prenatal test that analyzes fetal DNA in the mother's blood to screen for chromosomal abnormalities with high accuracy

Screening del DNA libero, Test prenatale non invasivo del DNA fetale

Screening del DNA libero, Test prenatale non invasivo del DNA fetale

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a medical test that uses sound waves to create pictures of a growing baby inside a pregnant woman's uterus to check for any potential problems

ecografia prenatale, ultrasuono prenatale

ecografia prenatale, ultrasuono prenatale

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cordocentesis
[sostantivo]

a prenatal procedure that involves withdrawing a small sample of fetal blood from the umbilical cord for diagnostic purposes

cordocentesi, puntura del cordone ombelicale

cordocentesi, puntura del cordone ombelicale

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a prenatal test that measures fetal neck thickness to assess chromosomal abnormalities during early pregnancy

screening della translucenza nucale, misurazione della translucenza nucale

screening della translucenza nucale, misurazione della translucenza nucale

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sonogram
[sostantivo]

a medical image taken using sound waves, commonly used in pregnancy to monitor fetal development

sonogramma, ecografia

sonogramma, ecografia

Ex: The technician printed a sonogram to document the patient 's health .Il tecnico ha stampato un **sonogramma** per documentare la salute del paziente.
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sonography
[sostantivo]

a medical imaging method using sound waves for real-time visual examinations of the body's internal structures

ecografia, sonografia

ecografia, sonografia

Ex: Sonography is a non-invasive technique widely used in healthcare.L'**ecografia** è una tecnica non invasiva ampiamente utilizzata in ambito sanitario.
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