Angelman syndrome - Study guides, Class notes & Summaries

Angelman syndrome - CORRECT ANSWER Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - CORRECT ANSWER autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - CORRECT ANSWER protein gluten is not properly broken down cystic fibrosis - CORRECT ANSWER Hered...

HOSA Pathophysiology ANSWERED CORRECTLY 2023//2024 Angelman syndrome - ANSWER Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - ANSWER autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - ANSWER protein gluten is not properly broken down cystic ...

Genetics Exam #2 With Questions and Answers 100% Solved What is the molecular mechanism for imprinting a gene? a. acetylation b. methylation c. phosphorylation d. mutation e. nitration - answerB Genomic imprinting most commonly uses____ to ____genes. Select one: a. acetylation : activate b. methylation : activate c. phosphorylation : activate d. methylation : deactivate e. phosphorylation : deactivate - answerD Individuals with three copies of most autosomes do not survive. Indivi...

NR507 2023 Midterm Exam Questions with Correct Answers Epigenetics - ANSWER heritable alterations that are not due to changes in DNA sequence epigenetic modifications, or "tags," such as DNA methylation and histone modification - ANSWER alter DNA accessibility and chromatin structure, thereby regulating patterns of gene expression. histone modifications - ANSWER A histone modification is a covalent posttranslational modification (PTM) to histone proteins which includes methylation, ...

HOSA Pathophysiology ANSWERED CORRECTLY 2023//2024 Angelman syndrome - ANSWER Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - ANSWER autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - ANSWER protein gluten is not properly broken down cystic ...

1. Question: A 10 year old male is stung by a bee while playing in the yard. He experiences a severe allergic reaction and has to go to the ER. The nurse providing care realizes this reaction is the result of: 2. Question: Chronic bronchitis is characterized by: 3. Question: A 6 year old female is ... with a bacterial infection of the respiratory system. Which of the following will most likely try to fight the antigen? 4. Question: A 52 year old male is ... with urinary tract obstruction. Whi...

SLP Praxis: Genetic Syndromes Latest Update Graded A+ Angelman Syndrome Chromosome 15 seizures, stiff and jerky gait, laughter and happy demeanor, excitable, short attention span, No or few words; nonverbals and verbal receptive skills much higher than expressive skills Apert Syndrome syndactyly, craniosynostosis, midfacial hypoplasia, cleft 25-30% of time conductive hearing loss sometimes, hyponasality, artic (s,z,f,v) normal intelligence sometimes, sometimes mild to moderate intellectual dis...

ANGELMAN SYNDROME

Housekeeping genes are vital to the function and maintenance of all the body's cells. What characteristic is associated with these genes? - Answer-D. They are transcriptionally active. Mutations in the encoding of histones modifying proteins have been shown to influence the development of what congenial condition - Answer-Heart disease Signals to change or modify epigenetic tags are ... from where? - Answer-Signals come from inside the cell, from neighboring cells or the environment Du...

HOSA Pathophysiology exam guide version 2023 with all updates Angelman syndrome - - Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - - autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - - protein gluten is not properly broken down cystic fibros...