Case report 2 patiënt details:

Mild Mental RetardationMild facial dysmorphisms

First karyotyping

Pictures of the chromosome analysis of an MR patiënt (yob. 1997)

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

2). What aberrations would you expect to see upon array analysis of DNA from this patient?

• Patient has been hybridized on 250K NspI SNP array

With the following results:

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

4). From which parent is the aberration originated?(please use the MS-Excel files provided)

5). Does the aberration explain the MR in the patient?

6). Write down the karyotype. What would you include in the final report?