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Symptoms Flashcards

1
Q

Disease common in Ash jews

A

Tay Sachs

Nieman Pick Types A and B

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2
Q

germ cells of old fathers

A

new ADDs

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3
Q

consanguineous marriage increases risk of

A

ARDs

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4
Q

infertile male

A

Y-linked disease

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5
Q

defect on OPN1LW and OPN1LMW genes on x chromo

A

color blindness

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6
Q

defect in extracellular glycoprotein fibrillin-1

A

MFS

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7
Q

defect in extracellular glycoprotein fibrillin-2

A

contractural arachnodactyly

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8
Q

Tall, thin, long extremities/digits (arachnodactally

A

MFS*

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9
Q

Short torso

A

MFS*

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10
Q

Joints in hand/feet are very lax (dbl jointed) (hyperextendable)

A

MFS, EDS (contortionists EDS), fragile X synd (esp the thumb)

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11
Q

Dolichocephalic (long headed)

A

MFS

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12
Q

Bossing of the frontal eminences

A

MFS

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13
Q

Pectus excavatum or pectus carinatum

A

MFS

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14
Q

Spine: kyphosis, scoliosis, rotated/slipped dorsal/lumbar vertebrae.

A

MFS

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15
Q

Prominent supraorbital ridges.

A

MFS*

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16
Q

ectopia lentis

A

MFS*

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17
Q

mitral regurgitation

A

MFS (from Mitral valve prolapse (lesions) from loss of connective tissue makes the valves soft and billowy AND lengthening of the chordae tendineae )

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18
Q

cystic medionecrosis

A

MFS* (not see elastin on slide – reason for sudden death bc aortic incompetence)

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19
Q

vit c deficiency

A

causes EDS

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20
Q

deficiency in lysyl hydroxylase

A

causes kyphoscoliosis type EDS

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21
Q

Skin hyperflexible, extrememly fragile, and vulnerable to trauma

A

EDS

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22
Q

ocular fragility w rupture of cornea and retinal detachment

A

Kyphoscoliosis type of EDS

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23
Q

Mutations in COL3A1 gene.

A

Vascular type of EDS:
=>abnormal type 3 collagen via:
•defects in the rate of synth for pro-α1 chains
•defects in the secretion of type III procollagen
•just structurall abnormal collagen type 3

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24
Q

rupture of colon

A

Vascular type of EDS

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25
Q

rupture of lg a’s in vulnerable organs (skin, ligaments, joints)

A

Vascular type of EDS

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26
Q

Mutations in 1 of the 2 T1 collagen genes: COL1A1 and COL1A2

A

Arthrochalasia type of EDS: structurally abnormal pro-a1(T1) or pro –a2 (T1) chains that resist cleavage of N-ternimal peptides

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27
Q

mutations in the procollagen-N-peptidase gene that codes for the enzyme that cleaves the collagen protein.

A

Dermatosparaxis type of EDS

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28
Q

Mutations in the genes for type V collagen (COL5A1 and COL5A2

A

Classic type of EDS

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29
Q

Mutations in the genes for tenascin-X

A

Classic type of EDS bc affect fibril formation in type I and VI collagen

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30
Q

diaphragmatic hernia

A

Classic type of EDS

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31
Q

atherosclerosis and increased risk of MI from..

A

FH

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32
Q

xanthomas

A

FH: in ligaments and tendons (and peritoneum and fascia)

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33
Q

thrombotic issue

A

FH (d/t atherosclerosis in <3)

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34
Q

complete occlusion in coronary a’s

A

FH (d/t atherosclerosis in <3)

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35
Q

complete failure of the synthesis of the LDL receptor protein

A

Class I FH

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36
Q

improper folding that causes LDL receptor to collect in the ER since they can’t be transported into the golgi.

A

Class II FH

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37
Q

LDL receptor cannot bind to the LDL even though they are inserted into the membrane.

A

Class III FH

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38
Q

problems internalizing the LDL into coated pits even though the receptors are made properly and bind correctly.

A

Class IV FH

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39
Q

affect the pH-dependent dissociation of the receptor and the bound LDL fails to separate and they are not recycled to the cell surface and are instead degraded in the lysosome.

A

Class V FH

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40
Q

hexosaminidase α-subunit deficiency on chromo 15

A

Tay- Sachs dis: inability to catabolize GM2 gangliosides

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41
Q

mutations that lead to UPR and therefore apop

A

Tay- Sachs dis

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42
Q

probs w C/ANS

A

Tay- Sachs dis: d/t accumulation of GM2 gangliosides

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43
Q

probs w retina

A

Tay- Sachs dis: d/t accumulation of GM2 gangliosides

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44
Q

Neurons dilated with cytoplasmic vacuoles

A

Tay- Sachs dis: represent distended lysosomes filled with gangliosides. (buut not 100% indicate TS)

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45
Q

cytoplasmic inclusions

A

Tay- Sachs dis: whorled configurations in lysosomes that are partially digested layers of membranes (buut not 100% indicate TS)

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46
Q

cherry red spot in macula

A

Tay- Sachs dis*: Ganglion cells in the retina also fill with GM2 ganglioside (but only seen in .5-.3 neimann pick type A)

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47
Q

Motor and mental deterioration with incoordination

A

Tay-Sachs (in general)

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48
Q

flaccidity

A

Tay-Sachs (in general)

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49
Q

blindness

A

Tay-Sachs: infantile form

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50
Q

dementia

A

Tay-Sachs (in general)

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51
Q

loss control of mental and physical abilities

A

Tay-Sachs: infantile form

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52
Q

deafness

A

Tay-Sachs: infantile form

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53
Q

unable to swallow

A

Tay-Sachs: infantile form

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54
Q

speech disorders

A

Tay-Sachs: juvenille and adultform

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55
Q

difficulty swallowing

A

Tay-Sachs: juvenille and adult form

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56
Q

loss cognitive thinking

A

Tay-Sachs: Juvinille form (also loss motor fcting) adult form (no loss motor)

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57
Q

Diseases that present w mental probs

A
  • Infantile Tay-Sachs: loss control mental abilities
  • Niemann-Pick Type A: severe mental probs
  • Niemann-Pick Type c: progressive neurological damage
  • Gaucher dis type 2: progressive CNS involvement
  • MPS, Cri du chat synd, Tirsomy 12, 18, 13, fragile x synd, prader willi synd, angelman synd: mental retardation
  • Klinefelter synd: low IQ (but no mental retard)
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58
Q

severe mental probs

A

Neimann-Pick Type A

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59
Q

visceral accumulation sphingomyelin

A

Neimann-Pick Type A

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60
Q

progressive wasting

A

Neimann-Pick Type A

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61
Q

organomegaly

A

Neimann-Pick Type B (hepatosplenomegaly: NPA and Gaucher dis type 1, 2 and MPS)

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62
Q

zebra bodies

A

Neimann-Pick Type A: small vacuoles w a foam-like appearance = engorged secondary lysosomes that contain concentric lamellated myelin figures
-also present in MPS (but less)

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63
Q

lymphadenopathy: enlarged/numerous/abn consistency LNs

A

Neimann-Pick Type A and Gaucher dis type 1, 2

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64
Q

gyri are shrunken and the sulci widened.

A

Neimann-Pick Type A

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65
Q

vacuolation and dilation of the neurons that leads to cell death and loss brain substance

A

Neimann-Pick Type A

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66
Q

Progressive failure to thrive

A

Neimann-Pick Type A, Von Gierke Dis (hepatic form GSD)

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67
Q

vomiting

A

Neimann-Pick Type A

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68
Q

fever

A

Neimann-Pick Type A

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69
Q

deterioration of psychomotor functions

A

Neimann-Pick Type A

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70
Q

mutations to NPC1 or NPC2

A

Niemann-Pick Type C

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71
Q

hydrops fetalis

A

Niemann-Pick Type C: accumulation in 2+ compartments

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72
Q

stillbirth

A

Niemann-Pick Type C

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73
Q

neonatal hepatitis

A

Niemann-Pick Type C

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74
Q

progressive neurological damage

A

Niemann-Pick Type C: childhood ataxia, vertical supranuclear gaze palsy, dystonia, dysarthria, and psychomotor regression

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75
Q

childhood ataxia

A

Niemann-Pick Type C

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76
Q

vertical supranuclear gaze palsy

A

Niemann-Pick Type C

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77
Q

dystonia

A

Niemann-Pick Type C

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78
Q

dysarthria

A

Niemann-Pick Type C

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79
Q

psychomotor regression

A

Niemann-Pick Type C

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80
Q

mutation in glucocerebrosidase gene

A

Gaucher dis: cannot cleave glucose from ceramide

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81
Q

Accumulation of glucocerebrosides in Mfs and monocytes throughout body, but not in the brain

A

Gaucher dis Type 1

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82
Q

mostly effects the spleen and skeletal sys

A

Gaucher dis Type 1 and 3

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83
Q

dis of European Jews

A

Gaucher dis Type 1

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84
Q

reduced glucocerebrosidase activity

A

Gaucher dis Type 1

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85
Q

almost no glucocerebrosidase activity

A

Gaucher dis Type 2

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86
Q

progressive CNS involvement

A

Gaucher dis Type 2 (and also type 3, but start adolescence there)

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87
Q

distended phagocytic cells that have fibrillary cytoplasm

A

Gaucher dis: gaucher cells: in spleen, liver, mone marrow, LNs, tonsils, thymus, Peyers patches, alveolar septa, and air spaces in the lungs.

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88
Q

bone fractures

A

Gaucher dis Type 1: from the accumulation of gaughers cells –> effects of cytokines

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89
Q

pancytopenia and thrombocytopenia

A

Gaucher dis Type 1: reduced RBCs, WBCs, and platelets d/t hypersplemism

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90
Q

convulsions

A

Gaucher dis Type 2, Von Gierke Dis (hepatic form GSD - d/t hypoglycemia)

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91
Q

from deficiencies of enzymes that are involved in the degradation of mucopolysaccharides

92
Q

accumulation of ECM components

A

MPS: specifically, dermatan sulfate, heparan sulfate, keratin sulfate, chondroitin sulfate

93
Q

course fascial features

A

MPS (esp hurler_

94
Q

clouding of the cornea

A

MPS (except not in hunter synd)

95
Q

joint stiffness

96
Q

mental retardation

97
Q

increased urinary excretion of the accumulated mucopolysaccharides

98
Q

accumulations of the substance found in in Mfs/monocytes, endothelial cells, intimal smooth muscle cells, and fibroblasts.

A

MPS: mucopolysaccharides

99
Q

skeletal deformities

A

MPS (esp hurler)

100
Q

valvular lesions

101
Q

subendothelial arterial deposits

A

MPS: (in coronary a’s → important causes myocardial ischemia and infarction and then death).

102
Q

balloon cells

A
  • MPS: numerous minute vacuoles (lysosmes) that contain mucopolysaccharides and stain w/periodic acid-Schiff.
  • Pompe Dis (T2GSD): w glycogen
103
Q

deficiency of α-L-iduronidase

A

Hurler syndrome (MPS I-H)

104
Q

grth retardation

A

Hurler syndrome, Von Gierke Dis (hepatic form GSD)

105
Q

deficiency of L-iduroulfate sulfatase

A

Hunter synd

106
Q

deficiencies of glucose-6-phosphatase, liver phosphorylase or debranching enzyme.

A

Von Gierke dz (type I glycogenosis)

107
Q

hepatic enlargement

A
  • Von Gierke Dis (hepatic form GSD)*: intracytoplasmic accumulations glycogen & small amt of lipid
  • mild in Pompe dis (T2GSD)
108
Q

hypoclycemia

A

Von Gierke Dis (hepatic form GSD)*

109
Q

renomegaly

A

Von Gierke Dis (hepatic form GSD): : intracytoplasmic accumulations of glycogen in cortical tubular epithelial cells

110
Q

gout

A

Von Gierke Dis (hepatic form GSD)

111
Q

skin xanthomas

A

Von Gierke Dis (hepatic form GSD)

112
Q

bleeding tendency

A

Von Gierke Dis (hepatic form GSD): d/t platelet dysf

113
Q

accumulation of glycogen in sarcolemma

A

Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD

114
Q

m weakness

A

Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD

115
Q

defect in muscle phosphorylase

A

McArdle Dz (type V GSD)

116
Q

defect in phosphofructokinase

A

Type VII GSD

117
Q

m cramps after exercise

A

Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD

118
Q

Serum creatine kinase always elevated

A

Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD

119
Q

lactate levels in veins fail to rise after exercise d/t a block in glycolysis

A

Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD

120
Q

Myoglobinuria

A

Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD

121
Q

myocardial cells full of glycogen

A

Pompe dis (T2 GSD)

122
Q

deficiency of α-glucosidase (acid maltase, a lysosomal enz).

A

Pompe dis (T2 GSD)

123
Q

cardiomegaly w hypotonia, fail in 2 yrs

A

Pompe dis (T2 GSD)

124
Q

Deletion of the short arm chromo5 (5p is usu paternal)

A

Cri du chat synd

125
Q

high-pitched mewing cry

A

Cri du chat synd (5p deletion)*: Heard in neonatal pd, lasts several wks then disappears

126
Q

Hypotonic

A

Cri du chat synd (5p deletion)

127
Q

Low birth wt

A

Cri du chat synd (5p deletion)

128
Q

Microcephaly

A

Cri du chat synd (5p deletion)

129
Q

Round face w wide set eyes

A

Cri du chat synd (5p deletion)

130
Q

Downward slanting palpebral fissures (w or wo eptcanthal folds)

A

Cri du chat synd (5p deletion)

131
Q

Strabismus

A

Cri du chat synd (5p deletion)

132
Q

Broad-based nose

A

Cri du chat synd (5p deletion)

133
Q 
Ears:
•	Low-set
•	Abn shaped
•	Narrow exernal aud canals
•	Preauricular tags
A

Cri du chat synd (5p deletion)

134
Q

Syndactaly

A

Cri du chat synd (5p deletion)

135
Q

Hypertelorism

A

Cri du chat synd (5p deletion)

136
Q

Cardiac probs

A

Cri du chat synd (5p deletion)

137
Q

Retarded mental and physical retardation

A

Cri du chat synd (5p deletion)

138
Q

old mom

A
  • Trisomy 21

- Klinefelter synd (if from mom)

139
Q

Flat facial profile

A

-Trisomy 21

140
Q

Oblique palpebral fissures.

A

-Trisomy 21

141
Q

Epicanthic folds.

A

-Trisomy 21

142
Q

All Pts develop Alzheimer’s by age 40.

A

-Trisomy 21

143
Q

Are predisposed to bad infections (particularly in lungs and thyroid autoimmunity) (bc abnormal immune responses)

A

-Trisomy 21

144
Q

Gap btwn 1st and 2nd toe

A

-Trisomy 21

145
Q

Increased risk of developing leukemia, w/the most common being acute megakaryoblastic leukemia.

A

-Trisomy 21

146
Q

Hypotonia

A

-Trisomy 21, fragile X synd, Pompe dis (T2GSD)

147
Q

Umbilical hernia

A

-Trisomy 21

148
Q

Gentle, shy manner

A

-Trisomy 21

149
Q

Congenital heart defects that include:

  • the endocardial cushion
  • Ostium primumAV valve malformation
  • Ventricular septal defects
A

Trisomy 21 Ventricular septal defects responsible for deaths in infancy and childhood
(<3 defects also in trisomies 18 and 13, and 22q11.2 deletion synd)

150
Q

Abundant neck skin

A

-Trisomy 21

151
Q

Intestinal stenosis (atresia) of the esophagus or the small intestine.

A

-Trisomy 21

152
Q

Simian crease

A

-Trisomy 21

153
Q

Mental retardation. (IQ 25-50)

A

-Trisomy 21, 18, 13

154
Q

47,XX, +21

A

-Trisomy 21

155
Q

result from meiotic nondisjunction

A
  • Trisomy 21, 18, 13

- (usu) Klinefelter

156
Q

Prominent occiput.

A

Trisomy 18

157
Q

Micrognathia

A

Trisomy 18

158
Q

Low set ears

A

Trisomy 18

159
Q

Short neck

A

Trisomy 18

160
Q

Overlapping fingers

A

Trisomy 18

161
Q

Renal malformations

A

Trisomy 18, 13

162
Q

Limited hip abduction

A

Trisomy 18

163
Q

Rocker-bottom feet.

A

Trisomy 18, 13

164
Q

Microcephaly

A

Trisomy 13

165
Q

Cleft lip and palate

A

Trisomy 13

166
Q

Polydactyly

A

Trisomy 13

167
Q

Microphthalmia

A

Trisomy 13 (small or missing eyeballs)

168
Q

47,XX,+18

A

Trisomy 18

169
Q

47,XX,+13

A

Trisomy 13

170
Q

Abnormalities of the palate

A

22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd): d/t Improper migration of neural crest cells into the 3rd and 4th pharyngeal arches.
• Due to problems with TBX1 that influences PAX

171
Q

Increased risk of schizophrenia and bipolar Ds

A

22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd)

172
Q

Hypocalcemia

A

22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd)

173
Q

Variable degrees of T-cell immunodeficiency

A

22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd)

174
Q

Developmental delay

A

22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd)

175
Q

Facial dysmorphism (Low-set ears, wide-set eyes, small jaw, bowing up of upper lip)

A

22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd)

176
Q

issues w parathyroids and thymus

A

22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd): d/t Improper migration of neural crest cells into the 3rd and 4th pharyngeal arches.
• Due to problems with TBX1 that influences PAX

177
Q

learning disabilities

A

Velocardiofacial synd

178
Q

47,XXY

A

Klinefelter synd

179
Q

Small atrophic testes (and tubes) and small penis.

A

Klinefelter synd

  • This is the only consistent finding
  • Thus reduces spermatogenesis and M infertility
180
Q

Increase in length between the soles and the pubic bone = taller person (long legs).

A

Klinefelter synd

181
Q

FSH and estradiol levels are consistently increased, T levels are decreased.

A

Klinefelter synd

  • The ratio btwn these extrogens and Ts determine amt feminimity
  • Leydig cells are prominent (from the crowding of the tubules and elevation of gonadotropin concs)
182
Q

Lack of secondary sex characteristics like deep voice, beard, and male pattern of pubic hair.

A

Klinefelter synd

183
Q

gynecomastia

A

Klinefelter synd (swelling of breast tissue in males).

184
Q

IQ a bit lower than average. (but no mental retard)

A

Klinefelter synd

185
Q

Increased risk of the metabolic syndrome, T2D (and thus insulin resistance), mitral valve prolapse, breast cancer, extragonadal germ cell tumors, autoimmune disorders (SLE), and osteoporosis from hormonal imbalance.

A

Klinefelter synd

-mitral valve prolapse also in Fragile X synd

186
Q

45, X

A

Turner synd

187
Q

edema of the hand and foot due to lymph stasis

A

Turner synd: d/t lymph stasis

188
Q

webbed neck and looseness of the skin

A

Turner synd: resulting from swelling of the nape of the neck (d/t distended lymph channels called a cystic hygroma.)

189
Q

CV probs: preductal coarctation of the aorta or bicuspid aortic valve.

A

Turner synd: The most important cause of mortality.

190
Q

Normal mental status (subtle defects in nonverbal, spatial processing)

A

Turner synd

191
Q

Short stature

A

-Turner synd: SHOX gene normally remains active at both X chromos…buut…
• From haploinsufficiency of SHOX gene, which is expressed in the long bones and 2nd pharyngeal arches, during fetal development
• (Also explains why people with extra X chromosomes are tall, since they have extra copies of SHOX)

-also in prader willi synd

192
Q

Hypothyroidism

A

Turner synd: (bc have Abs that react to thyroid gland)

193
Q

Glucose intolerance, obesity, insulin resistance

A

Turner synd: The therapy that uses GH usu worsens this insulin resistance
-(obesity also seen in prader willi synd)

194
Q

Low posterior hairline

A

Turner synd

195
Q

Cubitus valgus

A

Turner synd

196
Q

Pigmented nevi

A

Turner synd

197
Q

Streak ovaries

A

Turner synd: (ovaries that are reduced to atrophic strands, devoid oc ova and follicles)

198
Q

infertility/ amenorrhea

A

Turners Synd*: is most important cause of primary amenorrhea

199
Q

No sex characteristics at puberty for female (Inadequate breasts (Broad chest with wide nipples), little pubic hair )

A

Turner synd

200
Q

gonadoblastoma

A

Turners synd pt w a whole/partial Y chromo

201
Q

presence of ovarian and testicular tissue

A

Hermaphrodite

202
Q

ovaries + M ext genitalia

A

F pseudohermaphrodite

203
Q

testicular tissue + F ext genitalia

A

M pseudohermaphrodite

204
Q

trinuc repeat from oogenesis

A

fragile X synd

205
Q

trinuc repeat from spermatogenesis

A

huntingtons dis

206
Q

a mutation at Xq27.3 on FRMI gene that affects protein FMRP

A

fragile X synd

207
Q

most effect on brain and testes

A

fragile X synd (bc where FMRP most located)

208
Q

Long face and mandible, large everted ears, high arched palate

A

fragile X synd

209
Q

Macro-orchidism

A

fragile X synd*: (lg testes)(90% of pts, most distinguishing factor)

210
Q

Flat feet

A

fragile X synd

211
Q

Soft skin

A

fragile X synd

212
Q

premature ovarian failure (b4 age 40)

A

fragile X tremor/ataxia (if the F has the premutation)

213
Q

neurodegen in 60s

A

fragile X tremor/ataxia (if the M has the premutation)

214
Q

Intention tremors and cerebellar ataxia that can lead to parkinson’s dz.

A

fragile X tremor/ataxia

215
Q

effects seen on skm, <3 m, liver, kidneys

A

mutation on mito genes (LHON)

216
Q

b/l loss central vision

A

mutation on mito genes (LHON)

217
Q

hypotonia

A

prader-willi synd

218
Q

hyperpahgia

A

prader-willi synd

219
Q

small hands/feet: tapering of distal fingers

A

prader-willi synd

220
Q

hypogonadism

A

prader willi synd

221
Q

deletion of q12 of paternal chromo 15

A

prader willi synd

222
Q

ataxic gait

A

angelman synd

223
Q

seizures

A

angelman synd

224
Q

inapropriate laughter

A

angelman synd

225
Q

deletion of q12 of maternal chromo 15

A

angelman synd

MOD1 (6 decks)

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