Genetic Disorder Power Point Rubric Powerpoint Format (maximum 35 points) Area Excellent (5) Good (4-3) Fair (2) Poor (1) Slides 1 Contain at least 10 slides including title page and references Contains 8 – 9 slides Contains 7 slides Contains 6 or less slides Graphics 2 (ex. Type size, font style, colors and graphics are used well and consistent. Overall design of project is inconsistent with to much variation in type size, font style, colors and graphics.
karyotype, chromosome, Punnett squares, images of affected person, etc.) Presentation is rich with graphics that make the material easier to understand. Overall design of project is inconsistent with to much variation.
To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormalities) to classify the condition.
CHEDDA-related variants alter the particular structural features of the HX repeat motif, suggesting that CHEDDA results from perturbation of the structural and functional integrity of the HX repeat.
One of these syndromes is caused by the impairment of the presynaptic sodium-dependent high-affinity choline transporter 1, as a result of a mutation of the SCL5A7 gene associated with congenital myasthenic syndrome type 20 (MIM # 617143).
We present a new case of this syndrome, caused by a mutation not previously described.Each of the affected individuals has severe cognitive impairment and hypotonia, a recognizable facial gestalt, and variable congenital anomalies.However, they lack the progressive symptoms typical of DRPLA neurodegeneration.Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1, cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function. more Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1, cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function.We present detailed phenotypic information on eight unrelated individuals who have de novo missense and insertion variants within a conserved 16-amino-acid “HX repeat” motif of ATN1.Sources include both general background sources and specialized sources.Special-interest sources and popular literature are acknowledged as such if they are cited. The genetic analysis of congenital myasthenic syndromes provide information on the ultrastructural underlying mechanisms, which is valuable for differential diagnosis and specific treatments.Infertility is now a leading issue on the reproductive agenda. Graphics do not relate to the topic and/or do not have citations.Occurance in the population and, if applicable, occurance more in one group than another described.