6520036
Child with abnormal facies
- Neonatal Intensive Care Unit
- Incubator
- most important equipment
- used for
- oxygenation
- observation
- nutrition provision
- fluid balance maintainance
- medication adminstration
- oxygenation
- most important equipment
- Resuscitation
- Incubator
- Chromosome
- Structure
- DNA + proteins ( histones)
- centromere- constricted part of chromosome
- joins 2 arms
- P arm- short arm
- Q arm- Long arm
- P arm- short arm
- metacentric
- submetacentric
- acrocentric
- telocentric
- joins 2 arms
- centromere- constricted part of chromosome
- DNA + proteins ( histones)
- Number
- somatic cells- 46
- germ cells- 23
- somatic cells- 46
- Chromosomal abnormalities
- structural abnormalities
- deletion
- inversion
- duplication
- translocation
- deletion
- numerical abnormalities
- polyploidy
- trilpoidy
- caused by polyspermy
- caused by polyspermy
- tetraploidy
- problem in cytokinesis
- problem in cytokinesis
- trilpoidy
- aneuploidy
- caused by
- nondysjunction
- meiosis 1 or 2 in germ cells
- meiosis 1 or 2 in germ cells
- translocation
- reciprocal
- robertsanian
- reciprocal
- failure in duplication
- nondysjunction
- monosomy
- one less chromosome in a chromosome set (2n-1)
- one less chromosome in a chromosome set (2n-1)
- trisomy
- trisomy 21
- Down Syndrome
- risk factors
- maternal age >35
- one of the parents are translocation carriers
- maternal age >35
- Physical signs
- craniofacial anomalies
- upslanting eyes
- epicanthal folds
- flattened face
- small ears
- upslanting eyes
- hypotonia
- craniofacial anomalies
- health complications
- heart defects
- rare type of leukaemia
- metabolic irregularities
- heart defects
- tests
- antenatal tests to diagnose chromosomal abnormalities
- screening tests
- maternal serum screening
- ultrasound
- maternal serum screening
- karyotyping
- amniocentesis
- chorionic villus sampling
- confirmed by
- FISH
- tests for finer details, gene level mutations, and submicroscopic deletions
- tests for finer details, gene level mutations, and submicroscopic deletions
- FISH
- amniocentesis
- screening tests
- antenatal tests to diagnose chromosomal abnormalities
- genetic counselling
- process that includes
- evaluating family history and medical
history
- genetic tests
done
- evaluate the
tests
- decide what the options are, help parents understand, and make decision
- evaluating family history and medical
history
- process that includes
- intellectual disability
- measured by
- IQ test
- stanford binet intelligence scale
- stanford binet intelligence scale
- developmental milestones
- delayed
- delayed
- IQ test
- Humanitarian Aid
- by humanitarian organisation
- SCHS (Sharjah City for Humanitarian Services)
- local non profit organisation that aims to advance the arab family and develop social services it needs
- early intervention
- early intervention
- local non profit organisation that aims to advance the arab family and develop social services it needs
- for rehabilitation
- SCHS (Sharjah City for Humanitarian Services)
- by humanitarian organisation
- measured by
- risk factors
- Down Syndrome
- one extra chromosome in a chromosome set (2n+1)
- trisomy 21
- caused by
- polyploidy
- structural abnormalities
- Structure
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