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250K NspI SNP Array results

Case report 1 patiënt details: No Mental Retardation Reccurent Infections Heart defect open ductus botalli ( ODB ) Unilateral Renal Agenesis Transposition of the scrotum Tethered Cord Fatty Acid Oxidation defect Normal karyotype No subtelomeric deletions/duplications. 250K NspI SNP Array results.

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250K NspI SNP Array results

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  1. Case report 1 patiënt details:No Mental RetardationReccurent InfectionsHeart defect open ductus botalli (ODB)Unilateral Renal AgenesisTransposition of the scrotumTethered CordFatty Acid Oxidation defectNormal karyotypeNo subtelomeric deletions/duplications

  2. 250K NspI SNP Array results

  3. 1). What chromosome aberration do you see in the pictures provided? 2). What next step would you take in the analysis of this patient

  4. 250K NspI SNP Array results of patiënt and parents Patient Mother Father

  5. 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?

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