karyotyping results

[artydutch]

For those interested, this is the report of the genetic karyotyping.

ARRAY REPORT SUMMARY: Clonal copy number gain of chromosome 9 and loss of 20q11.23 to q13.2

ARRAY ISCN: arr[GRCh38] (9)x3[0.3],20q11.23q13.2(37225921_56316600)x1[0.3]

A peripheral blood DNA sample from this patient was tested for copy number changes and loss of heterozygosity

(LOH) using the Illumina Infinium GSA v3 SNP genotyping array.

RESULTS

Array analysis has shown this patient to have an XX sex chromosome constitution and two clonal copy number

changes in ~30% of cells:

- Trisomy for chromosome 9

- An ~19Mb interstitial copy number loss of the long arm of chromosome 20, band q11.23 to q13.2