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6520036
Child with abnormal facies
Description
Mind Map on Child with abnormal facies, created by Salma Mk on 30/09/2016.
Mind Map by
Salma Mk
, updated more than 1 year ago
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Created by
Salma Mk
almost 8 years ago
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Resource summary
Child with abnormal facies
Neonatal Intensive Care Unit
Incubator
most important equipment
used for
oxygenation
observation
nutrition provision
fluid balance maintainance
medication adminstration
Resuscitation
Chromosome
Structure
DNA + proteins ( histones)
centromere- constricted part of chromosome
joins 2 arms
P arm- short arm
Q arm- Long arm
metacentric
submetacentric
acrocentric
telocentric
Number
somatic cells- 46
germ cells- 23
Chromosomal abnormalities
structural abnormalities
deletion
inversion
duplication
translocation
numerical abnormalities
polyploidy
trilpoidy
caused by polyspermy
tetraploidy
problem in cytokinesis
aneuploidy
caused by
nondysjunction
meiosis 1 or 2 in germ cells
translocation
reciprocal
robertsanian
failure in duplication
monosomy
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
Physical signs
craniofacial anomalies
upslanting eyes
epicanthal folds
flattened face
small ears
hypotonia
health complications
heart defects
rare type of leukaemia
metabolic irregularities
tests
antenatal tests to diagnose chromosomal abnormalities
screening tests
maternal serum screening
ultrasound
karyotyping
amniocentesis
chorionic villus sampling
confirmed by
FISH
tests for finer details, gene level mutations, and submicroscopic deletions
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
intellectual disability
measured by
IQ test
stanford binet intelligence scale
developmental milestones
delayed
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
for rehabilitation
one extra chromosome in a chromosome set (2n+1)
Media attachments
ae0f113c-704a-4bd4-ad65-56e4e2ab08c2 (image/png)
66b35a22-0929-43ee-8ac5-dca83197399c (image/jpeg)
c29c1b5b-06b2-4ef2-a1f5-f5c7c96732fc (image/png)
5477e9e1-8495-4cd1-98c9-5d432f51d287 (image/png)
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