Skip to main content

Table 1 Summary of results

From: Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation

Test Patient Father Mother
Array * Xq27.3q28 (CTD-3109C8 > CTD-2341N11) x1 Normal Normal
FMR1 30 repeats 31 repeats 30 and 31 repeats
IDS activity Normal n.d. n.d.
X-inactivation 100:0 ratio n.d. n.d.
  1. *Based on BAC array for patient and Oligonucleotide SNP array for parents; n.d., not done.