Case report 1 patiënt details:

No Mental RetardationReccurent InfectionsHeart defect open ductus botalli (ODB)Unilateral Renal AgenesisTransposition of the scrotumTethered CordFatty Acid Oxidation defect

Normal karyotypeNo subtelomeric deletions/duplications

250K NspI SNP Array results

1). What chromosome aberration do you see in the pictures provided?

2). What next step would you take in the analysis of this patient

250K NspI SNP Array results of patiënt and parents

Patient

Mother

Father

3). Please analyse the data of chromosome 16 in detail?(please make use of provided Excel files)

4). What is your diagnosis and does this fit the clinical symptoms of the patiënt?

5: What will you include in the report of this patient, including the karyotype?