My amnio results came back with a 3.92 MB Interstitial deletion at 1p22.1->p21.3 and I am terrified my baby will have an intellectual disability. The genetic counselor is not sure how the baby will be affected as the deletion does NOT include MIR137. There have only been I think 12 reported cases of people missing 1p22.1 and they all have severe ID. However, they are all missing MIR137. There are no reported cases of the same deletion they say my baby has.
The test shows deletion of 1p22.1p21.3 (94, 055, 89-97, 972, 315)x1
1. Is there a chance the microarray test is incorrect? I can't believe that my baby would have something this rare.
2. The test also states "there are genes in the interval that are associated with autosomal recessive diseases -- ABCA4 and DPYD. Autosomal recessive conditions have a clinical effect only when both alleles are abnormal. the analysis showed no evidence of a homozygous deletion." Does this mean the baby most likely won't be affected by the missing DPYD?