Trisomy Study guides, Class notes & Summaries

NUR 631 - Final Exam Where do we hold DNA inside the cell? - ANSWER Nucleus What is it called when cell's commit suicide/programmed cell death? - ANSWER Apoptosis In carbon monoxide poisoning, what would we see and why? - ANSWER Tissue damage d/t CO binding on hemoglobin preventing oxygen from being able to bind to those sites, preventing tissue oxygenation If ph is LOW, Bicarb i...

monosomy - ANSWER-the loss of one chromosome from a pair; usually rare & fetus is usually non-viable trisomy - ANSWER-an addition to a pair of chromosomes; relatively common autosomal dominant inheritance - ANSWER-children of a heterozygous parent have a 50% chance of possessing the defective gene. children who don't inherit the defective gene will themselves have unaffected offspring. examples of autosomal dominant disorders (2) - ANSWER-marfan syndrome & neurofibromatosis autosoma...

CPN Exam Questions and Answers 100% Correct CPN Exam Questions and Answers 100% Correct CPN Exam Questions and Answers 100% Correct CPN Exam Questions and Answers 100% Correct monosomy - ANSWER-the loss of one chromosome from a pair; usually rare & fetus is usually non-viable trisomy - ANSWER-an addition to a pair of chromosomes; relatively common autosomal dominant inheritance - ANSWER-children of a heterozygous parent have a 50% chance of possessing the defective gene. childr...

ATI Med Surg Test Questions Overview of Genetics and Genomics in Nursing 100%Correct Answers 2024. 1. A baby is born with what the physician believes is a diagnosis of trisomy 21. This means that the infant has three number 21 chromosomes. What factor describes the etiology of this genetic change? a. The mother also has genetic mutation of chromosome 21. b. The patient has a nondisjunction occurring during meiosis. c. During meiosis, a reduction of chromosomes resulted in 23. d. The patie...

SNV Correct Answer: Any sequence change that affects one base of genome SNPs are common ones Promoter Correct Answer: specific region of a gene where RNA polymerase can bind and begin transcription Nucleosome Correct Answer: 150 bps of DNA around core proteins Stop Codons Correct Answer: UAA, UAG, UGA Karyotype Analysis Correct Answer: Usually done at metaphase Detects trisomy, deletions, duplications, translocations Confirming test FISH Analysis Correct Answer: Fluores...

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 fibrosis Hereditary condition that causes the exocrine gland...

During the birthing process, the patient frequently experiences chills during a. stage 2 b. stage 3 c. stage 4 C. Stage 4: from the delivery of the placenta through the first 1-4 hours after birth. By day 2 after delivery, the uterus should normally descend at the rate of a. 0.5 cm per day b. 1 cm per day c. 2 cm per day B. By day 2 after delivery, the uterus should normally descend at the rate of 1 cm per day. During the second trimester, an ultrasound may be used to estimate gestati...

OB HESI FINAL Exam with 100% Correct Answers 2023 A client who delivered an infant an hour ago tells the nurse the she feels wet underneath her buttock. The nurse notes that the perineal pad is saturated and the client is lying in a 6-inch diameter pool of blood. Which action should the nurse implement first? A. Cleanse the perineum B. Obtain a blood pressure C. Palpate the firmness of the fundus D. Inspect the perineum for lacerations - Correct answer-Correct Answer: C A firm uterus i...

What is Starling's Law of Capillary forces? How does this explain why a nutritionally deficient child would have edema? - ANSWER Starling's Law describes how fluids move across the capillary membrane. There are two major opposing forces that act to balance each other, hydrostatic pressure (pushing water out of the capillaries) and osmotic pressure (including oncontic pressure, which pushes fluid into the capillaries). Both electrolytes and proteins (oncontic pressure) in the blood affe...

Autosomal Dominant (Ans- 1 parent has, 50% change of child having Autosomal Recessive (Ans- Both parents are carriers, 25% change of child having, 50% chance child is a carrier. Cystic Fibrosis (Ans- affects pancreas causing secretions in lungs 21st Trisomy (Ans- Down Syndrome Klinefelter Syndrome (XXY) (Ans- male has extra X, female like qualities Turner Syndrome (Ans- Missing X in females Alpha Thalassemia (Ans- inherited blood disorder; mild to severe anemia ...