Trisomy 21 - Study guides, Revision notes & Summaries

Turner Syndrome Correct Answer-SGA low posterior hairline broad chest widely spaced nippes edema of extremities short webbed neck Trisomy 18 (edward's syndrome) Correct Answer-prominent occiput low set malformed ers small eyes and jaw clenched hands with overlapping fingers rocker bottom feet Trisomy 21 (down syndrome) Correct Answer-brushfield spots (white or greyish/brown spots on the periphery of the iris) small ears simian crease excess skin folds upslanting palpebral fi...

Down syndrome Correct Answer-- Most common cause is Maternal nondisjunction. - Risk factors: Pregnancy in women over age 35 - Newborn has the distinctive physical features of trisomy 21, which includes upward slating of the eyes. Down syndrome is characterized by distinctive characteristics Correct Answer-nasal bridge, epicanthal folds, protruding tongue, and low-set ears. Physical exam reveals a murmur and an echocardiogram confirms a ventricular septal defect Correct Answer-Down synd...

Foregut (Ans- Pharynx to duodenum Midgut (Ans- Duodenum to proximal 2/3 of transverse colon Hindgut (Ans- Distal 1/3 of transverse colon to anal canal above pectinate line Abnormal Rostral Fold Closure (Ans- Developmental defect of anterior abdominal wall that leads to STERNAL DEFECTS Abnormal Lateral Fold Closure (Ans- Developmental defect of anterior abdominal wall that leads to OMPHALOCELE, GASTROSCHISIS Abnormal Caudal Fold Closure (Ans- Developmental defect of ant...

NURS 5335 family 2 Study Guide EENT Family Nursing II Modules 1&2 Non-Ulcerative: A/W seborrhea; seen commonly with trisomy 21; affects those with psoriasis, seborrhea, eczema, allergies and lice. Chemical and environmental irritants contribute Ulcerative:Involves the lash follicle & the Meibomian glands of the eyelid.May be pustules at the base of the hair follicle that crust & bleed.Lashes break easy. - Blepharitis Blepharitis treatment - TX: Warm compress; daily lid scrubs; erythromyc...

Edelman CCI Questions and Answers Already Passed When transporting a patient with a urinary catheter the bag should always be: Below the patients bladder A 52 year old woman develops a murmur after a myocardial infarction. What is the most likely etiology? Ventricular Septal Defect How do you position a patient for using a PEDOF probe along the right sternal border? Right lateral decubitus A patient with down syndrome (trisomy 21) is referred to your lab for an echo. Which of t...

Class SATA Qs Maternal Question and answers already passed Class SATA Qs Maternal/Newborn (Ch 9,10,12-16) 1. During the first trimester, ultrasonography is most frequently used to do which of the following: (Select all that apply) a) confirm pregnancy b) verify location of pregnancy (uterine, ectopic, etc.) c) confirm gender of fetus d) confirm number and viability of fetuses e) identify markers such as nuchal translucency (NT) - correct answer a) confirm pregnancy b) verify locatio...

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...

Under what circumstances should an infant with clinical features of Down syndrome be karyotyped? A. Only if the parents desire more children B. Only if the mother is younger than 35 years old C. Only if not all of the features of Down syndrome are present D. Only if the mother has had 3 early miscarriages E. Always - Answer-E. Always What is the parental origin and stage of meiosis when most meiotic errors occur resulting in chromosomal trisomy? A. Maternal meiosis I B. Paternal...

ABGC Practice Questions and Answers 2024 Updated Under what circumstances should an infant with clinical features of Down syndrome be karyotyped? A. Only if the parents desire more children B. Only if the mother is younger than 35 years old C. Only if not all of the features of Down syndrome are present D. Only if the mother has had 3 early miscarriages E. Always - CORRECT ANSWER-E. Always What is the parental origin and stage of meiosis when most meiotic errors occur resulting...

karyotyping - number and type of chromosome present Barr body - -condensed inactive X chromosome near nucleus of cell -all females have 1 Barr body nondisjunction - failure of chromosomes to separate during meiosis autosomal nondisjunction - -failure of chromosomes (other than sex chromosomes) to separate during meiosis -exs: trisomy 21, trisomy 18 translocation - portion of one chromosome is transferred to another (usually nonhomologous) abnormal egg (XX) x normal sperm (X) - -zygote: X...