Path 1- Gen & Developmental Disorders

taylormaloney's version from 2016-07-20 04:23

Section 1

Question Answer
What are the four main stages of prenatal development?Preimplantation, Germ Layer Formation, Early Organogenesis, Definite Organogenesis.
What type of external influences are developing organs sensitive to?Chemical Agents, Physical Agents, and Viral Agents.
What are the three Primordial Germ Layers, and what do they give rise to?Ecto-skin, nervous system. Meso- muscle, bones, CT. Endo- GI, respiratory, epithelial lining.
What is Teratology?Science of disturbances in development.
What are Teratogens?Agents that cause fetal abnormalities/Fetal Malformations.
The lack of/mutation of _____________ results in abnormal development.Essential Genes.
What are two examples of genetic conditions?Cleft Lip, Dwarfism.
What are some examples of physical exogenous teratogens?X-Rays, Corpuscular Radiation.
What are some examples of chemical exogenous teratogens?Industrial Chemicals, Drugs, Alcohol.
What are some examples of microbial exogenous teratogens?Viruses, Bacteria, Protozoal Parasites.
What is TORCH syndrome?A collection of several pathogens that cause a syndrome of fetal defects.
What does TORCH stand for?Toxoplasma, Others, Rubella, Cytomegalovirus, Herpes.
What organs are involved in the TORCH syndrome?Brain, Eyes, Heart, Liver/Lungs, & Skin Lesions.
What is the cause of Congenital Rubella Syndrome?Mother infected with rubella during first trimester.
What is the triad of symptoms related to Congenital Rubella Syndrome?Microcephaly, Microphtalmia, and Congenital Heart Disease.

Section 2

Question Answer
Normal Human cells contain how many chromosomes?2 sets of 23 chromosomes. 46 in total.
How many autosomes are found in the human cells?22 (pairs of identical chromosomes.)
What factor decides the sex of a baby?The 23rd Pair of Chromosomes. XX-female. XY- Male.
What is the most common numerical abnormality involving an autosome?Trisomy 21, Down's Syndrome.
What is the most common source of the additional chromosome?Mother's genes, especially in older women.
What are three types of genetic chromosomal syndromes?Down Syndrome, Turner's Syndrome, and Klinefelter's Syndrome.
What is the chromosomal abnormality that marks Turner's Syndrome?Monosomic- lacking an x chromosome.
What are the clinical features of Turner's Synd?Short stature, heart shaped face, webbing of neck, heart disease, broad chest, cubitus valgus, and underdeveloped ovaries.
What is the chromosomal abnormality that marks Klinefelter's Syndrome?Gain of additional Chromosome-XXY. (Males)
What are the clinical features of Klinefelter's synd?Tall, long limbs, lack of body hair, enlarged breasts, female-like hips, testicular atrophy.
Define Gene.Basic physical and functional unit of heredity. Made of DNA.
Genetic Conditions that are caused by mutations of a single gene are usually ______.Hereditary.

Section 3

Question Answer
What is the general understanding regarding Autosomal Dominant Disorders?One parent is affected.
What is the gene mutation of Marfan's Syndrome?Abnormal Fibrillin causes loose connective tissue- cannot support normal function.
What are the clinical features of Marfan's Synd?Elongated head, prominent frontal bone, eye abnormalities, aortic aneurysm, floppy mitral valve, vertebral deformity, long fingers.
Cause of death most commonly associated with Marfan's Synd?Heart Failure.
What is the gene mutation of Familial Hypercholesterolemia?Less cholesterol is removed from blood- causing deposition of lipids in arteries- atherosclerosis.
How is F Hypercholesterolemia treated?No cure- low fat diet, and statin drugs to lower cholesterol levels.

Section 4

Question Answer
What is the general understanding regarding Autosomal Recessive Disorders?Only expressed if one gene is inherited from each parent. Parents generally asymptomatic carriers.
What is the most common autosomal recessive disorder? What racial group is it most often found in?Cystic Fibrosis. Caucasians.
What is the cause of Cystic Fibrosis?Defect in the transport of chloride across cell membrane- insufficient amount of sodium chloride in secretions of exocrine glands.
What exocrine glands are most affected?Those in the pancreas, intestine, and bronchi.
What does this mean for the body?Less water present in secretions, secretions are thicker and block the lumen.
Is there a cure / What is the life expectancy?No- Likely fatal by early 20's. Most commonly due to pulmonary infections.
What is Phenylketonuria?Deficiency in enzyme- Phenylalanine Hydroxase.
What does this deficiency cause?Inability to properly metabolize proteins.
What are the clinical features of Phenylketonuria?Initially healthy, fair skin/hair, blue eyes, mousy odor,
How is PKU treated?Phenylaline-Deficient Diet, otherwise will cause slow irreversible mental regression.
What is Hemophilia?Rare bleeding disorder in which blood does not clot properly.
What does X-Linked Recessive mean?Mother is carrier of the gene.
What is the cause of Hemophilia?Mutation of gene that codes for Coagulation Factors 8 + 9.
What is the potential outcome for Hemophiliacs?Mild to Severe Forms- potential for severe bleeding and hemarthrosis.
How is it treated?Coagulation Factors 8 + 9 have been cloned, lab made factors used to treat patients.
What is Muscular Dystrophy?An X-Linked Recessive Disease that causes progressive muscle wasting.
What are the two main types of muscular dystrophy?Duchenne's and Becker's.
What is the main difference between the two types?Duchenne's is more serious, begins in utero. Becker's is less serious, begins in late childhood.
Is MD more commonly found in men/women, what muscle tissue is usually effected?MC found in men, and usually skeletal muscle is effected most.
What is the general process by which the muscles waste away?Lack of dystrophin causes muscles to lose ability to keep their form- muscles disintegrate.
What is Anencephaly?Multifocal developmental defect caused by environmental and genetic factors.
What is the clinical signs of Anencephaly?Born severely malformed, with no brain or only basal part of brain.
Where is Anencephaly most commonly found?Ireland.
What is Diabetes Type 2?A multifactorial disease w/ Genetic and Enviromental Factors.
What is the familial incidence ?50%- of those with diabetes have family who are also affected.
There is a high incidence in what race?People of interracial origins.
Transmission from affected parents occurs in what percentage of cases?15%

Section 5

Question Answer
What is prenatal diagnosis?Diagnosis of genetic or chromosomal abnormalities in a fetus during early development.
What is prenatal diagnosis based on?Ultrasonographic exam, chronionic villa biopsy, amniotic fluid analysis, and maternal blood analysis.
What is Neonatal Respiratory Distress Syndrome?Premature birth of fetus leading to functionally immature lungs.
What is an important factor for the respiratory system that is deficient in premature births?Surfactant.
What is a birth injury?Various lesions caused by mechanical trauma during delivery.
What are possible causes of a birth injury?Large fetuses, abnormally positioned fetus, disproportion between fetus + birth canal.
What are possible common lesions related to birth injuries?Skull fractures, intracranial hemorrhage, fractures of long bones, peripheral nerve injury, rupture of internal organs.
What is Sudden Infant Death Syndrome?Sudden unexplained death of child between ages 2mo - 9mo
Autopsy of a child with SIDS will usually show?Signs of Anoxia.