3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

Table 1

Validation with quantitative reverse-transcription polymerase chain reaction (qRT-PCR) assays. This table shows the values obtained by means of qRT-PCR in the patient analyzed and her mother. Two amplicons were amplified by qRT-PCR; they were located in the deleted region (3p14.2-p14.1), in the FAM19A1 and ATXN7 genes. The control gene used to normalize the data was RPP30, located at 10q23.31. The values of the patient were less than half the values of her mother, who was used as the normal control.

	Patient	Mother
FAM19A1	0.480	1.06
ATXN7	0.450	1.06

ΔΔCt = (Ct_target − Ct_Ref)DNA_test − (Ct_target − Ct_Ref)DNA_Ref.
= (sd1² + sd2²)^1/2.
.