trisomy
Third chromosome copy
Trisomy is a genetic condition in which a cell has three copies of a particular chromosome instead of the usual two.
The most common form is trisomy 21, better known as Down syndrome.
Trisomy typically results from errors during cell division and can affect various chromosomes with different effects: The prenatal screening tests for trisomy.
Organized chromosome display
- meiosisGamete-producing cell division
- mosaicismMixed genetic makeup
- chromosomal abnormalityStructural or numerical DNA error
- cell divisionParent splitting into offspring
mitosis · centromere · chromatid · translocation · germ cell · disjunction
Third chromosome 21 present
- chromosomal disorderIllness from atypical cellular genetics
- developmental delaySlower-than-typical milestone achievement
- congenitalExisting from birth
- intellectual disabilityImpaired reasoning and adaptive skills
facial features · hypotonia · life expectancy · live birth · miscarriage · stillbirth · phenotype
Prenatal diagnostic fluid extraction
- prenatal diagnosisMedical assessment of fetus
- genetic screeningTesting DNA for abnormalities
- maternal ageAge of the mother
- nuchal translucencyFetal neck-fold thickness assessment
ultrasound · genetic counseling · risk assessment · false positive
Prompt response to emerging problems
- occupational therapyRestoring practical life abilities
- speech therapyTreatment for communication disorders
- physical therapyRehabilitative movement-based medical care
- special educationAdapted instruction for disabilities
inclusion · advocacy · awareness · acceptance · adaptive learning · developmental milestones · support services · therapeutic care
karyotype
Organized chromosome display
- meiosisGamete-producing cell division
- mosaicismMixed genetic makeup
- chromosomal abnormalityStructural or numerical DNA error
cell division · mitosis · centromere · chromatid · translocation · germ cell · disjunction
Down syndrome
Third chromosome 21 present
- chromosomal disorderIllness from atypical cellular genetics
- developmental delaySlower-than-typical milestone achievement
- congenitalExisting from birth
intellectual disability · facial features · hypotonia · life expectancy · live birth · miscarriage · stillbirth · phenotype
amniocentesis
Prenatal diagnostic fluid extraction
- prenatal diagnosisMedical assessment of fetus
- genetic screeningTesting DNA for abnormalities
- maternal ageAge of the mother
nuchal translucency · ultrasound · genetic counseling · risk assessment · false positive
early intervention
Prompt response to emerging problems
- occupational therapyRestoring practical life abilities
- speech therapyTreatment for communication disorders
- physical therapyRehabilitative movement-based medical care
special education · inclusion · advocacy · awareness · acceptance · adaptive learning · developmental milestones · support services · therapeutic care · individualized education
- geneticsDNA, allele, genotype, genes, gene
- Genetic Disorderscystic fibrosis, hemophilia, sickle cell disease, sickle cell anemia, sickle cell
- Genetic Riskgenetic marker, genetic testing, genetic counseling, gene mutation, predisposition
- chromosome abnormalitiesdeletion, duplication, translocation, inversion, tetraploidy
- Cytogeneticskaryotyping, karyotype, chromosomes, autosomes, G-banding
- chromosome errorstetraploidy, Down syndrome, mosaicism