Prader willi - Samenvattingen, Notities en Examens

Angelman Syndrome causes (expression and % of total) correct answers **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 correct answers methylation first since finds ~80% of cases then UBE3A seq and del/dup features: happy demeanor, abnormal gait, seizures, delayed/absent speech Prader-Willi Syndrome causes (expression and...

ASCP Exam Questions and correct answers 2024 Which is required to generate cDNA A. DNA polymerase B. RNase H C. Restriction Enzyme D. Helicase - answer-B What is the function of Taq Polymerase - answer-recognize dsDNA You have a 50 μL primer stock at 9pM/μl and want dilute the stock to 900nM. How much stock should you add(what is the dilution factor) - answer-2 What gene causes hypersensitivity to Irinotecan? - answer-UGT1A Which allele causes hypersensitivity to Carbamazepi...

How is transcription best defined? - ANSWERRNA is synthesized from a DNA template. An amniocentesis indicates a neural tube defect when an increase in which protein is evident? - ANSWERAlpha fetoprotein Amniocentesis is recommended for pregnant with what history? - ANSWERHave a family history of genetic disorders 35 or older positive prenatal screening test chromosomal condition or neural tube defect in a previous pregnancy abnormal ultrasound results What is the technique for prena...

NUR 631 MID TERM REVIEW QUESTIONS AND ANSWERS, RATED A+ What is an example of compensatory hyperplasia - -Liver regeneration What causes the rapid change in the resting membrane potential to initiate an action potential - - Sodium gates open, sodium rushes into the cell, changing the membrane potential from negative to positive What type of necrosis is often associated with pulmonary tuberculosis - -Caseous Necrosis Low plasma albumin causes edema as a result of a reduction in which pres...

PRITE LATEST 2024 EXAM QUESTIONS WITH REVISED ANSWERS 100% CORRECT A 36 year old is admitted to the inpatient psychiatric unit for acute psychosis and suicidal ideation. Following treatment, symptoms have improved and the patient no longer endorses suicidal thoughts. However, the patient continues to have residual psychotic symptoms and functional impairment. The patient is notes to be homeless with minimal social support. A decision is made to continue with inpatient hospitalization, but th...

CSP EXAM Review Questions and answers, 100% Accurate, graded A+/ rated A+. requires modified diet with lower LCT and increased MCT. Minimal fat <5 g/day En = Enfaport or skim milk - -Chylothorax A 4 yr old boy weighs 15kg requires nasogastric feeds. He has normal GI function. What is the most appropriate feeding regimen? A. Isotonic Formula started at full strength 15 ml/hr B. Isotonic Formula started at half strength 30 ml/hr C. Semi-elemental formula at 15 ml/hr D. Fluid rest...

TEST BANK for Dulcan's Textbook of Child and Adolescent Psychiatry, 3rd Edition ISBN 978-1-61537-327-7 Verified Answers From Publisher Contents Questions C H A P T E R 1 Assessing Infants and Toddlers 1 C H A P T E R 2 Assessing the Preschool-Age Child 2 C H A P T E R 3 Assessing the Elementary School–Age Child 4 C H A P T E R 4 Assessing Adolescents 5 C H A P T E R 5 Classification of Psychiatric Disorders 7 C H A P T E R 6 The Process of Assessment and Diagnosis 9 C H A P T E R 7 Diagnostic...

AAT deficiency - Answer Alpha1 antitrypsin deficiency--AAT binds to neutrophil elastase to prevent inflammatory damage to lung tissue. Mutant AAT accumulates in liver. Autosomal recessive disorder. Accelerates emphysema in smokers/lung irritants. Prader-Willi Syndrome - Answer A paternal chromosome 15 deletion syndrome (maternal copy imprinted): short, fat, small hands/feet, mild intellectual disability. Angelman Syndrome - Answer A maternal chromosome 15 deletion syndrome (paternal copy i...

NURS 6501 | NURS 6521 Advanced Pharmacology | Advanced Pharmacology FINAL QUESTIONS WITH VERIFIED SOLUTIONS Question 1 An aide asks the nurse why people who have neurofibromatosis will show varying degrees of the disease. Which genetic principle should the nurse explain to the aide? Selected Answer: b. Expressivity Correct Answer: b. Expressivity Why is potassium able to diffuse easily in and out of cells? Selected Answer: c. Because the resting plasma membrane is more permeabl...

WGU D115 Exam Study Guide How is transcription best defined? - ️️RNA is synthesized from a DNA template. An amniocentesis indicates a neural tube defect when an increase in which protein is evident? - ️️Alpha fetoprotein Amniocentesis is recommended for pregnant with what history? - ️️Have a family history of genetic disorders 35 or older positive prenatal screening test chromosomal condition or neural tube defect in a previous pregnancy abnormal u...