Angelman syndrome Study guides, Class notes & Summaries

ABGC Boards Overview Questions and Answers 100% Solved Angelman Syndrome causes (expression and % of total) ️️**paternal imprinting defect, should be maternal expression 5-7 kb deletion on maternal chr15q11.2-13 (60-70%) UBE3A maternal deletion (11%) Paternal UPD15 (3-7%) Angelman testing strategy and condition features ️️methylation first since finds ~80% of cases then UBE3A seq and del/dup features: happy demeanor, abnormal gait, seizures, delayed/absent speech Prader-Wil...

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...

HOSA Pathophysiology Question and answer rated A+ 2024 HOSA Pathophysiology Question and answer rated A+ 2023 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 de...

SSS/BETS (small sharp waves / benign epileptiform transients of sleep) Low voltage, short duration, diphasic spikes with a steep descending limb. Usually seen in drowsiness and light sleep. SREDA (subclinical rhythmic electrographic discharges of adults) Sharply contoured theta activity in the posterior head region. A normal variant in older adults during wakefullness. 14 and 6 positive spikes 1-2 seconds of sharply contoured discharges in the posterior head regions in light sle...

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...

ASCP (MB) Final Exam Questions and Answers (Part III) Complete Solutions, Graded A+ - 2023. PCR can test for what diseases?: Hep - B Herpes simplex 1 Herpes simplex 2 HIV HPV Epstein-barr Cytomegalovirus Cystic fibrosis Huntingtons Bk virus Fragile X Parovirus 2. qPCR can test for what diseases?: Herpes simplex 1 Herpes simplex 2 Epstein-barr HPV HIV Cytomegalovirus Bk virus VZV 3. RT PCR can test for what diseases?: HIV Influenza Coronavirus Ewing sarcoma Synovial sarco...

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, ...

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 post-translational modification (PTM) to histone proteins 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...

ABGC 100 Genetic Conditions Exam With 100% Correct And Verified Answers T13 - Correct Answer-Nondisjunction; 1 in 12,000 SGA, MCA: hypotelorism, CLP, heart, brain and kidney defects RR is 1% T18 - Correct Answer-Nondisjunction; 1 in 6,000 SGA, MCA: prominent occiput, tightly clenched fingers, heart and brain defects Choroid plexus cyst on u/s RR is 1% T21 - Correct Answer-MATERNAL nondisjunction (90%); 5% translocation 21;**usually 14**; 2% mosaic T21 1 in 800 Hypotonic, heart (50...