Exam III-Part II Genetic Pathologies Flashcards
1
Q
What is another name for Trisomy 21?
A
Down Syndrome
2
Q
What is another name for Trisomy 18?
A
Edward Syndrome
3
Q
What is another name for Trisomy 13?
A
Pat-au Syndrome
4
Q
Trisomy Physical Characteristics: Overlapping Fingers
A
Trisomy 18-Edward Syndrome
5
Q
Trisomy Physical Characteristics: Renal Abnormalities (2)
A
Trisomy 18-Edward Syndrome & 13 -Patau
6
Q
Trisomy Physical Characteristics: Rocker Bottom Feet (2)
A
Trisomy 18- Edward & Trisomy 13-Patau
7
Q
Trisomy Physical Characteristics: Prominent Occiput
A
18-Edward
8
Q
Trisomy Physical Characteristics: Flat Occiput
A
21-Down
9
Q
Trisomy Physical Characteristics: OVERLAPPING fingers
A
Trisomy 18-Edward
10
Q
Trisomy Physical Characteristics: Congenital Heart Defects & Mental Retardation (3)
A
13,18,21 (all three dawg)
11
Q
Trisomy Physical Characteristics: MicroEncephaly
A
Trisomy 13 - Patau
12
Q
Trisomy Physical Characteristics: PolyDactyl
A
Trisomy 13 - Patau
13
Q
Trisomy Physical Characteristics: Umbilical Hernia (2)
A
Trisomy 13 and 21 (MOSTLY 21)
14
Q
Trisomy Physical Characteristics: Cleft Lip/ Palate
A
Trisomy 13-Patau
15
Q
Trisomy Physical Characteristics: Fused Toes
A
Trisomy 13 - Patau
16
Q
Trisomy Physical Characteristics: Ventricular Septal Defect/ Atrial Septal Defect
A
Trisomy 21-Down
17
Q
Trisomy Physical Characteristics: Atresias of esophagus/small bowel
A
Trisomy 21-Down
18
Q
Trisomy Physical Characteristics: MegaColon
A
Trisomy 21-Down
19
Q
Trisomy Physical Characteristics: Gap Between Toes
A
Trisomy 21-Down
20
Q
Trisomy Physical Characteristics: Hypotonia
A
21-Down
21
Q
Trisomy Physical Characteristics: Simian Crease
A
21-Down
22
Q
Trisomy Physical Characteristics: Promenant Epicanthal Fold & Oblique Palpebral Fissures
A
21-Down
23
Q
Trisomy Physical Characteristics: Protruding Tongue
A
21-Down
24
Q
Trisomy Physical Characteristics: Brushfield Spots
A
21-Down
25
Trisomy Physical Characteristics: Flat Occiput
21-Down
26
Trisomy Physical Characteristics: Acute Leukemias
21-Down
27
What is the genetics of Cri Du Chat Syndrome?
Deletion of the Short arm (p) of chromosome #5...Official Scientific Notation: (5p-)
28
What is the sex genotype for Klinefelter's syndrome?
XXY
29
What is the sex genotype for Turner's syndrome?
XO
30
Which syndrome has a genotype of XO?
Turner's Syndrome
31
Which syndrome has a genotype of XXY?
Klinefelter's Syndrome
32
Klinefelter Syndrome is best defined as male __________ (one of the most common causes) and occurs when there are two or more ___ chromosomes and one or more ____ chromosome.
hypogonadism..2 or more X and one or more Y
33
Which syndrome? It is rarely diagnosed before puberty because the testicular abnormality does not develop until the early teens.
Klinefelter
34
Which Syndrome?: Most patients have a eunuchoid body habitus with long legs which creates the appearance of an elongated body with small atrophic testes, a small penis, and lack of secondary sex characteristics (deep voice, beard voice and male distribution of pubic hair.
Klinefelter Syndrome
35
In Klinefelter Syndrome, the hypogonadism is the most consistent finding, the plasma _____ levels are consistently elevated and the ______ levels are reduced.
FSH....testosterone
36
Which syndrome? The pathology relates to reduced spermatogenesis and male infertility. The testicular tubules are totally atrophied, and replaced by pink, hyaline, collagenous shells.
Klinefelters
37
Who is to blame for Klinefelters? Mom or dad?
its 50/50!!
38
What is Characterized by hypogonadism in phenotypic females, and is the most common sex chromosome abnormality in females?
Turner Syndrome
39
Which syndrome? Clinical features includes short stature, rarely exceeding 150cm. in height.
Turner Syndrome
40
________ Syndrome is the single most important cause of primary amenorrhea, accounting for 1/3 of the cases.
Turner Syndrome
41
Which syndrome is MALE hypogonadism?
Klinefelter (has a penis) XXY
42
Which syndrome is a FEMALE hypogonadism?
Turner (has ovaries) XO
43
Which syndrome? Pt’s present during infancy with edema (due to lymph stasis) of the dorsum of the hands and feet.
Turner
44
BIG ONE: In Turner Syndrome: There is ______ of the neck due to distended lymphatic channels, producing the so-called ________. As these infants grow older, the webbing can become a persistent looseness of skin on the back of the neck.
webbing...ON TEST---cystic hygroma---ON TEST
45
Which syndrome? Broad-shaped chest with widely-spaced nipples
Turner
46
Which syndrome? Pigmented nevi on the skin of the extremities and trunk.
Turner
47
Which syndrome? Abnormal carrying angle of the arm, called _________.
cubitus valgus
48
BIGGIE: Turner Syndrome: Congenital heart defects are common, particularly _________!!! and bicuspid aortic valves.
coarctation of the aorta!!!!
49
What are the single most important cause of increased mortality in Turner's girls?
CARDIOVASCULAR abnormalities
50
Turner Syndrome: At puberty, there is failure to develop normal secondary sex characteristics-the genitalia remains infantile, breast development is inadequate, there is little pubic hair, and the ovaries are reduced to atrophic, fibrous strands (_________), resulting in infertility.
streak ovaries
51
Which syndrome has Hypothyroidism associated with it?
50% of pt get Turner Syndrome
52
In Turners Syndrome, fetal ovaries develop normally early in embryogenesis, but the absence of the second X chromosome leads to an accelerated loss of ______, which is complete by the age of _____ years. _______ occurs before menarche in other words.
oocytes..two..Menopause
53
Huntington's Diease is an ________ ________ genetic disorder.
Autosomal Dominant
54
HD: Characterized by __________ of all parts of the body, with deterioration of _________, and severe ________ disturbances.
involuntary movements....cognitive...emotional
55
What is the only race HD affects?
Whites of NW Europe decent
56
Which chromosome is the Huntington gene found on?
Chromosome 4
57
What is the altered protein made in Huntingtons?
"Huntingtin"
58
HD is one of the purest examples of a true _______ completely _______ disorder (heterozygotes do not differ clinincally)
autosomal....dominant
59
Marfan's Syndrome is _________ (type of genetic disorder), and is related to the dysfunction of a gene on chromosome ___ that codes for _______, a connective tissue protein essential for the maintenance of tissue structure of various organs.
autosomal dominant...chromosome 15...Fibrillin
60
Marfan syndrome is a disorder of ________ of the body.
connective tissues
61
Which autosomal dominant disorder has EXTREME PAIN AND DEATH through a DISSECTING AORTIC ANEURYSM?
Marfan's Syndrome
62
What are the 3 organ systems involved with Marfan Syndrome?
CONNECTIVE TISSUE therefore: 1. Skeletal 2.Cardiovascular (dissecting aortic aneurysm) 3. Eyes
63
What is the protein deficiency with Marfan's Syndrome?
Fibrilin (tendon and vessel walls)
64
What type of genetic disease is Cystic Fibrosis? What chromosome?
Autosomal Recessive..Chromosome 7
65
What are the 3 organs involved in Cystic Fibrosis?
Pancreas, Intestines, Lungs
66
What Gram - bacteria do you worry about with cystic fibrosis?
Pseudomonas aeruginosa!!!
67
What disease uses the sweat test?
Cystic Fibrosis
68
What type of genetic disorder is Osteogenesis Imperfecta? What are the two genes affected? What do the genes code for?
Autosomal Dominant...COL1A1 & COL1A2-->code for Procollagen
69
Where are the O.I. genes located? hint: two different chromosomes..
COL1A1: Chromosome 17.....COL1A2: Chromosome 7
70
What is the layman's term for O.I.?
Brittle Bone Disease
71
Since O.I. affects both dentine and pulp, what are the two visible malformations in the teeth?
1. Bluish-Yellow in color 2. Misshapen
72
What is the most common form of inherited mental retardation due to a defect on the long arm of the X Chromosome AND is Second only to Trisomy 21 as an identifiable cause of mental retardation?
Fragile X Syndrome!
73
Fragile X: The locus at X_27 is associated with mental retardation due to a repeat of an amino acid sequence (_____ repeat at the fragile site)
Xq27..CGG repeat
74
What syndrome? The male newborns afflicted appear normal, but during childhood, certain characteristics begin to appear: Increased Head Circumference, Facial Coarsening, Joint, Hyperextensibility Enlarged Testes, Abnormalities of the Cardiac Valves
Fragile X
75
What % of Female carriers of Fragile X are intellectually normal?
2/3
76
What type of genetic disease is Duchenne Muscular Dystrophy?
X-linked Recessive
77
Mutations within the DuchMuscDys gene can either be ______ or occur _________!
inherited or occur spontaneously!
78
For DMD: In general, only ______ are afflicted although ______ may be carriers.
MALES affected...females may be carriers
79
What is the protein that DMD codes for which provides stability in the muscle sarcolemma?
DystroPhin
80
In DMD: A positive ________: the child helps himself to get up with his upper extremities: first by rising to stand on his arms and knees, and then “walking” his hands up his legs to stand upright.
GOWER SIGN
