6544319
Description
child with abnormal facies
- salem was born at term to a 41 years old multiparous woman
- salem postpartum signs:
- upslanting eyes
- heart murmur
- breathing difficulties
- admitted to neonatal intensive care unit
- equipments
needed:
- oxygen saturation
monitor-oxygenation
- feeding
tube-nutrition
- IV
pump-nutrition
- temperature monitor-must be kept warm as he was just
delivered from his mom's womb which is warm
- ECG and blood pressure monitor
- oxygen saturation
monitor-oxygenation
- he needed immediate resuscitation
- ventilation
(bad-musk)
- endotracheal
intubation
- ventilation
(bad-musk)
- equipments
needed:
- admitted to neonatal intensive care unit
- upslanting eyes
- karyotyping detects
- number of chromosomes
- normally we have 23 pair of
chromosomes (46 or 2n)
- haploid(n)=23
chrom. -gamets
- diploid(2n)=46chrom-zygote
or body cells
- haploid(n)=23
chrom. -gamets
- abnormal
- polyploidy
- tripoid
- 3(n)=3(23)=69 chromosomes
- 3(n)=3(23)=69 chromosomes
- tetraploid
- 4(n)=4(23)=92 chromosomes
- 4(n)=4(23)=92 chromosomes
- tripoid
- aneuploidy
- causes
- translocation: displacment of
a part or whole of one
chromosome to another one
- 3%
- causes trisomy
21
- which leads to down
syndrome
- the age of the mother plays an important rule in
causing such failures in meiosis or others. the
older the woman the more she's at risk of having
a down syndrome child
- complications
- mild intellectual disability
- IQ score range: 50-70
- IQ TEST Assessment
- IQ score range: 50-70
- vision problems
- heart defects
- most common: antrioventicular septal defect
- most common: antrioventicular septal defect
- hearing problems
- hypothyrodism
- mild intellectual disability
- how to break bad news?
- practice what you're going to say
- choose the right time
- signal bad news before you dive in
- accept silence for a bit
- decide what to do next
- Salem was send to Sharjah city for humanitarian service
- their mission
- reduce the cause of varies disabilities through early intervention
- reduce the cause of varies disabilities through early intervention
- their mission
- practice what you're going to say
- how to deal with down syndrome
- financial aspects
- education
- equipments
- treatment
- insurance
- education
- behavioral aspect
- stubborn
- attention problem
- compulsive behavioral
- stubborn
- financial aspects
- the age of the mother plays an important rule in
causing such failures in meiosis or others. the
older the woman the more she's at risk of having
a down syndrome child
- which leads to down
syndrome
- causes trisomy
21
- 3%
- nondisjunction: failure for
chromosomes to separate during
anaphase
- in meiosis 1
- 90%
- 90%
- in meiosis 2
- 10%
- 10%
- in meiosis 1
- failure of duplication: one
chromosome fails to duplicate
during S phase
- translocation: displacment of
a part or whole of one
chromosome to another one
- causes
- polyploidy
- normally we have 23 pair of
chromosomes (46 or 2n)
- structure of chromosome
- normal
- abnormal
- deletion
- duplication
- inversion
- translocation
- balanced
- unbalanced
- balanced
- deletion
- normal
- can be performed by taking any
cell like: amniotic fluid,blood, bone
marrow and placenta
- other tests
- screeniing test
- detects risk for pregnancy to have down
children baby. done in first and second
trimester.
- uses ultrasound
- uses maternal serum screening
- detects risk for pregnancy to have down
children baby. done in first and second
trimester.
- genetic counseling
- process
- evaluating family history
- evaluate medical history
- genetic tests
- analyze blood samples and determine whether you,
your partner or your child carry genes for certain
inherited disorders.
- analyze blood samples and determine whether you,
your partner or your child carry genes for certain
inherited disorders.
- evaluating family history
- process
- screeniing test
- number of chromosomes
- salem postpartum signs:
- chromosome types
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