Genetic Results

Paisley's lissencephaly is indeed a genetic disorder. She has deletion in chromosome 17p13.3, a small segment in her 17th chromosome.

"Deletion of the Lissencephaly gene (PAFAH1B1) is associated with isolated lissencephaly, which results in a range of clinical features, including profound to mild intellectual disability and seizures. The clinical feature typically correlate with the degree of lissencephaly and cortical thickness." With that being said, the degree of Paisley's lissencephaly is incomplete and her cortical thickness is normal so the geneticist called her lissencephaly "mild" which is great news! She doesn't expect Paisley's life to be dramatically shortened and doesn't expect Paisley to have the most severe complications resulting from lissencephaly. Although Paisley's lissencephaly is incomplete, her brain is still 100% malformed with lissencephaly in the back of her brain, cobblestone in the front, and polymicrogyria all over; nothing new and her physical and mental retardation is still severe in that way.
With deletion in chromosome 17p13.3 also comes Miller-Dieker Syndrome, which is very severe and comes with a poor quality of life. PAISLEY DOES NOT HAVE THIS. To have Miller-Dieker, Paisley must also have another deletion in the "YWAE" area? Don't ask me to elaborate on that one, I just know she does not have it!
Paisley's condition was not brought on by any infection, virus, trauma, stress, drugs (which I don't do anyways!), or whatever else people want to ask me about. It could affect future children of our's if one of us have a chromosome that is inverted: when a segment of your chromosome is turned upside-down from normal. Completely normal people can have it because all the data is still there and works, but when it's met with someone else's (baby-making) it can twist up trying to meet the other's normal chromosome. Brandon and I did bloodwork to cancel that scenario out. It could've simply been a freak accident (bad egg, sperm, etc.).

Genomic Microarray Analysis Report
Abornal Microarray Result arr 17p13.3
Interpretation: Microarray analysis using a whole genome oligonucleotide array, which includes the subtelomeres, pericentromic regions and known genetic syndromes, detected a clinically significant finding based on current literature. Fluorescence in situ hybridization (FISH) testing, dated 1/19/12, has confirmed the deletion for this specimen.
Alteration 1: Clinically Significant CNV. A 931 kb single copy loss was detected at 17p13.3 (chr17:2366339-3298212). This deletion contains 2 OMIM genes, as well as 15 additional genes. According to literature reports, deletions of this region, including the gene PAFAH1B1, are associated with isolated lissencephaly. The clinical features are reported to range from profound intellectual disability, epilepsy, spasticity and shortened life span to milder forms with intellectual disability and infrequent seizures. The clinical features typically correlate with the degree of lissencephaly and cortical thickness. This deletion does not include the YWHAE gene which has been associated with Miller-Dieker syndrome. Clinical correction is recommended.
Recommendations: Genetic counseling regarding the significance of these results is recommended. Parental testing may be performed.
Microarray Summary: Microarray analysis was performed on this specimen using the NimbleGen CGx-3 array whcih includes 134829 oligonucleotides probes.



So I'm most likely going to Vanderbilt because last night Paisley had such a severe seizure that she could barely breathe and she was completely out of it and unaware. It was the worst one I have seen so far. At least she only has significant ones at night now.