250K NspI SNP Array results
7
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
description
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. - PowerPoint PPT Presentation
Transcript of 250K NspI SNP Array results
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?
