Micro-array Results Explained?

Micro-array Results Explained?

Posted in the Genetics Forum

Melissa

Claremont, NH

#1 Aug 23, 2013
Is there anyone who can explain these mutations to me? The results say that the mutated genes have no currently known clinical significance, however, Pip4k2b seems rather important. In mice it shows an intolerance to insulin? Could this gene mutation cause the patient's low blood sugar (has been recorded around 48-60 on several occasions, not currently diagnosed with any hyperglycemia)? The patient is primarily being seen for abnormal EEG consistent with encephalopathy w/ normal MRI,?seizure disorder, events of apnea, and developmental delay. I am not in any way educated in this subject so I have most likely completely misinterpreted these results. This is absolutely fascinating to me and I wish to understand it slightly more. This is clearly the future of medicine. Thank you geneticists and neuro biologists for all you do, you are very amazing people.

RESULTS: Normal Microarray Results, Male
arr(1-22)x2,(XY)x1

INTERPRETATION: No copy number changes of clinical significance or isodisomic uniparental disomies (UPDs) were detected in the genomic DNA of this patient using the CytoScan HD array.

DNA from this patient contains the following copy number variants that are currently of no known clinical significance:
chr17:36898600-36929773 copy number gain (x3) 31 kb [PCGF2, PSMB3, PIP4K2B]

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