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12 Genetic Disorders
Terms in this set (75)
List the Chromosomal Disorders
1) Down Syndrome ( Trisomy 21)
2) Edwards Syndrome ( Trisomy 18)
3) Patau Syndrome ( Trisomy 13)
List the Genetic Gender Disorders
1) Turner Syndrome ( 45 XO)
2) Klinefelter Syndrome ( 47, XXY)
3) Double Male ( XYY)
List the Autosomal Dominant Disorders
2) Von Hipple-Lindau Disease
3) Marfan's Syndrome
4) Familial Adenomatous Polyposis
5) Polycystic Kidney disease
List the Autosomal Recessive Disorders
1) Cystic fibrosis
2) Sickle cell anemia
3) Phenylketonuria (PKU)
List the X- linked Disorders
1) Duchenne Muscular Dystrophy
2) Fragile X - Syndrome
Disorder associated with Multifactorial Disorder
Disorder assocated with Mitochondrial Disorder
Leber's Hereditary Optic Neuropathy:
Brachycephaly( also known as flat head syndrome)
Flat nasal bridge.
Congenital septal defects in heart.
What disorder Increases risk of acute leukemia.
What disorder has an Early onset of Alzheimer disease.
Short sternum, and small pelvis
Cardiac, renal and intestinal defect.
Incidence of Edwards Syndrome
Incidence: 1/8,000 births
-Microcephaly ( head is more than two standard deviations Smaller than average for the person's age and sex)
-Abnormal brain development.
-Cleft lip and palate.
-Decreased muscle tone.
Incidence of Patau Syndrome
1/ 25,000 births
Turner syndrome is chromosome ---
Turner syndrome occurs in --- due to an absent
Female ; X chromosome
Characteristics of Turner's Syndrome
-Webbing of the neck (extra folds of skin on the neck).
-Primary amenorrhea ( absence of a menstrual period in a woman of reproductive age)
-Infertility (premature ovarian failure)
-Coarctation of aorta (narrowing of the large artery).
Patau Syndrome is Trisomy
Trisomy 18 is
Trisomy 21 is
Incidence of Turner's Syndrome
Incidence: 1/3000 female birth.
Characteristics of Double male (XYY)
-Excessively tall with severe acne.
-Increased risk of behavioral problems.
Incidence of Patau Syndrome
Incidence: 1/25,000 births.
Incidence of Double male (XYY)
-Incidence: 1/1,000 male births.
Characteristics of Klinefelter's Syndrome (47, XXY)
Lack of male secondary sex characteristics.
-Testicular atrophy (small testes that do not produce enough testosterone).
-Gynecomastia (abnormal development of large mammary glands in males)
-Learning disabilities and difficulty with speech and language development.
Incidence of Klinefelter's Syndrome (47, XXY)
1/2,000 male births.
Autosomal Dominant Disorders is a result of
Abnormal structural genes
Autosomal Dominant Disorders is occurs in --- and is present AFTER---
Equally in Males and Females; After Puberty
Incidence of Down's Syndrome
Affect 1 in 800 children
What is the Most common chromosomal disorders
Neurofibromatosis is located on
Neurofibromatosis has a triad of characteristics. These are---
Café-au-lait spots, neurofibromas, and Lisch nodules
Characteristics of Neurofibromatosis
- Classic triad of :
1) café-au-lait spots
2) neurofibromas (benign nerve sheath tumor in the peripheral nervous system)
3)Lisch nodules ( Benign pigmented tumor that are yellow-brown papules that project from the surface of the iris)
Incidence of Neurofibromatosis
Von Hipple-Lindau Disease occurs on chromosome
Characteristics of Von Hipple-Lindau Disease
1) Hemangioblastomas in CNS and Retina
2) Renal cell carcinoma
3) Cysts in internal organs.
Marfan's Syndrome is located on chromosome
Incidence of Marfan's Syndrome
Characteristics of Marfan's Syndrome
1) Connective tissue disorders: Skeletal abnormalities (tall build with hyperextensible joints). Subluxating joints, long fingers and toes.
2) Cardiovascular side effects in which you can have aortic incompetence, aortic aneurism and a floppy mitral valve (valvular insufficiency).
3) Ocular: subluxation of the crystalline lens.
Familial Adenomatous Polyposis is located on chromosome
Characteristics of Familial Adenomatous Polyposis
Polyps on the colon post-puberty
Which patient gets colon cancer 100%
Patients with Familial Adenomatous Polyposis
Polycystic Kidney disease is on chromosome
Characteristics of Polycystic Kidney disease
-Results in kidney enlargement
-Progressive renal failure.
-Associated with polycystic liver disease.
-Mitral valve prolapse.
Autosomal Recessive Disorders occurs ONLY when patient is ---
Homozygous for the trait
Autosomal recessive traits and are due to an --- deficiency
Autosomal Recessive Disorders affects
Males and females equally
Cystic fibrosis is located on chromosome
Cystic fibrosis occurs in ----
What is the most common lethal autosomal recessive disorders
Incidence of Cystic fibrosis
Characteristics of Cystic fibrosis
-The abnormal gene product leads to defective chloride channels in epithelial cells.
- Lungs - bronchial obstruction leads to recurrent infection, chronic bronchitis, and bronchiectasis.
-Pancreas - chronic pancreatitis with extensive atrophy of the exocrine pancreas is due to pancreatic duct obstruction and also pancreatic insufficiency leading to malabsorption and steatorrhea.
Liver - bile duct obstruction leads to biliary cirrhosis.
Diagnosis is measured by the --- in Cystic fibrosis
Chloride content in sweat
Sickle cell anemia is a mutation in the
Beta globin gene
Incidence of Sickle cell anemia
1/400 African American are afflicted
Characteristics of Sickle cell anemia
Crescent-shaped red blood cells are a diagnostic clue.
Phenylketonuria (PKU) is a deficiency of
Characteristics of PKU
-High levels of circulating phenylalanine cause severe brain damage in infancy.
X - Linked disorders are caused by
mutations on the X - chromosome
X - Linked disorders are expressed
Always expressed in males whether they are recessive or dominant
Sons of Heterozygous Mothers in X - Linked disorders have--- % chance of being affected
Severe recessive X-linked form of muscular dystrophy is known as
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy is characterized by
Rapid progression of muscle degeneration, eventually leading to loss of ambulation and death
- Cardiac Manifestation
-Death usually occurs before age 20
Most PREVALENT of Muscular dystrophies.
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy affects
one in 3500 males
Methylation and expression of the FMR1 gene is characteristic of ---
Fragile X - Syndrome
A very common cause of genetic mental retardation, second only to Down's syndrome.
Fragile X - Syndrome
Characteristics of Fragile X - Syndrome
-Methylation and expression of the FMR1 gene.
-Long face and jaw.
Multifactorial disorders is Influenced by
Multiple genes and environmental factors. More severe expression of traits in the parents carries a greater likelihood that the will be transmitted to children
Examples of Multifactorial disorders
Hypertension, diabetes mellitus type II, schizophrenia, and the following congenital disorders: pyloric stenosis, cleft lip and palate, congenital heart disease, anencephaly, and congenital hip dislocation.
Tradmark Characteristic of Osteogenesis Imperfecta
are transmitted only through the ----
mothers, a passage known as maternal inheritance.
Who is affected in Mitochondrial Disorders?
Most commonly seen in men in their late 20's or early 30's.
Trademark characteristid of Leber's Hereditary Optic Neuropathy?
Degeneration of retinal ganglion cells resulting in Loss of color vision
Acronym of Leber's Hereditary Optic Neuropathy
"My mother Leber lost my eyes".
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