Case report 3 patient details: Moderate Mental Retardation ADHD

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Case report 3 patient detailsModerate Mental
RetardationADHD AutismFacial
dysmorphismsVelopharyngeal insufficiencySimian
Crease both handsDeafnessFather of patient has
died 3 years agoNormal karyotypeNo
subtelomeric deletions/duplications
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1). What chromosome aberration(s) do you see in
the pictures provided? 2). What would be your
next step in the analysis of this patient?
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Patient
Mother
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Patient
Moeder
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Patient
Moeder
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3). What can you conclude after the analysis of
the mother? 4). Could you extract more data
from the SNP calls? (please use provided SNP call
data in Excel files) 5). Does the aberration
explain the MR in the patient? 6). Write down
the karyotype. What would you include in the
final report?