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chromosomal abnormalities (common types of chromosomal abnormalities (Down…
chromosomal abnormalities
chromosome
structure
DNA (helix)
nucleosome
solenoid
chromatin
chromosome
centromere
q arm
p arm
histone
number
46 in somatic cells
23 in germ cells
to know what is an
tests to determine down syndrome
noninvasive
ultrasound
invasive
amniocentesis
chorionic villous sampling
maternal serum screening
after taking a sample in some tests
karyotyping
is a procedure used to examine chromosomes in a sample of cells
used to determine chromosomes
size
number
shape
in addition to other procedures like FISH
used to detect the presence or absence of specific DNA sequence on chromosome
genetic counselling
help the parents and family members to adapt the medical condition
help to answer their concerns
basic principles of bioethics
principles
Autonomy
Beneficence
Nonmaleficence
justice
bioethics means
study of the ethical questions related to health
types of chromosomal abnormalities of down syndrome
Translocation
Mosaic
Non-disjunction
how to break bad news to the parents
speak in plain language
sit down
ask open-ended question
show concern for the patient
apologize for the wait
offer support and reassurance
common types of chromosomal abnormalities
Cri du Chat syndrome
5p-
wolf-hirschhon syndrome
4p-
Patuau syndrome
Trisomy 13
Klinefelter's syndrome
47,XXY
Edward syndrome
Trisomy 18
Turner syndrome
45,X
Down syndrome
Trisomy 21
Jacobsen syndrome
11q-
describe down syndrome
chromosomal abnormality occurs when an error in cell division result extra chromosome 21
lifespan up to 60 years
rehabilitation
speech-language therapy
occupational therapy
physiotherapy
emotional and behavioral therapies
IQ
Impact of down syndrome on the family
emotionally
family might get emotional changes regarding to his/her actions (they should be patient with him/her) and try to teach them
financially
they will spend more money for his/her needs
socialy
how others (family members and strangers) will socialize with him/her
indicate the importance of
abnormal chromosome
structure
translocation
inversion
deletion
ring chromosomes
duplication
number
Aneuploidy
polyploidy
lead to
signs and symptoms of down syndrome
senses
vision
cataract, keratoconus, strabismus, brush field spots, glucoma
hearing
hear loss due to otitis media
intellectual
average is 50 (extremely low)
physical signs
upward slant to the eyes
small mouth and protruding tongue
small abnormally shaped ears
small flat nose
heart defect
persistent ductus arteriosus
mitral valve problems resulting in heart murmurs
ventricular septal defect
atrioventricular septal defect