1. Case report 3 patient details: Moderate Mental Retardation ADHD & Autism Facial dysmorphisms Velopharyngeal insufficiency Simian Crease both hands Deafness Father of patient has died 3 years ago Normal karyotype No subtelomeric deletions/duplications

6. 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?

7. Patient
Mother

8. Patient
Moeder

9. Patient
Moeder

10. 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?