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Down syndrome, Including, Including, Which is managed by, Which is manged…
Down syndrome
What is Down syndrome?
Causes
Diagnostic test
FISH test
no hyberdization
results
mutation
evaluation
advantages
high sensitivity ans spesificity
quick results (24 - 48 hours)
limitations
time-consuming and requires intense labor
inability to identify other chromosomal abnormalities
expensive
inaccuracy in testing chromosomal structural abnormalities
hybirdization
results
chromosome presence
antenatal tests
blood tests
CBC
blood glucose test
blood type and RH factor
ultrasound tests
dating scan
nuchal translucency scan
anomaly scan
growth scan
diagnostic procedures
amniocentesis
chorionic villus sampling
intellectual intelligence tests
assesment for development
Vineland-3
DDST
Bayley-III
E-LAP
IQ test
Stanford-Binet Intelligence Scales
Complications
Morphology of Down syndrome
Life expectancy
Types
Mosaicism
Translocation
Trisomy 21
Challenges
Intellectual
Speech Therapy
Educational Therapy
Emotional
Behavioral Therapy
Physical
Ocupational Therapy
Routine health screening
Physical Therapy
Affects
Members of society
Siblings
Community/ Coworkers
Parents
Chromosomes
Structure
consists of
Chromatid
centromere
Telomere
Chromosome shapes include
Acrocentric
Submetacentric
Metacentric
Abnormalities
Structural abnormalities
Types
Deletion
Duplication
Inversion
Translocation
Numerical abnormalities
relevant types
Monosomy
Trisomy
Karyotyping
Steps to karyotyping
Indication
Naming
How to deal with it
Communicating bad news
The SPIKES Protocol
Genetic counseling
Overview
Role of the genetic counselor
Risk factors of having genetic disorder
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