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TOP THE BOARDS!!!!!! > 👨‍👩‍👧‍👦 Genetics D/O > Flashcards

👨‍👩‍👧‍👦 Genetics D/O Flashcards

1
Q

Trisomy 21

A

DOWN SYNDROME

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2
Q

Most common chromosomal disorder and cause of congenital mental retardation

A

DOWN SYNDROME

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3
Q

95% due to MEIOTIC NONDISJUNCTION of homologous chromosomes

A

DOWN SYNDROME

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4
Q

Advanced maternal age (>45.y.o.) (35-40)

A

DOWN SYNDROME

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5
Q

Most common preventable congenital mental retardation

A

CREETINISM

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6
Q

Mongoloid facies features (flat faced, low bridged nose and epicanthal folds)

A

DOWN SYNDROME

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7
Q

Brushfield spots-speckled appearance of the iris

Muscular hypotonia

A

DOWN SYNDROME

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8
Q

Simian crease or palmar crease

A

DOWN SYNDROME

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9
Q

Alzheimer’s disease in >35 years old (in adults)

A

DOWN SYNDROME

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10
Q

Most common malformation of DOWN SYNDROME

A

ENDOCARDIAL CUSHION DEFECT

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11
Q

Increase risk of ACUTE LYMPHOBLASTIC LEUKEMIA (in children)

A

DOWN SYNDROME

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12
Q

Most common ASD in DOWN SYNDROME in adults

A

Ostium primum

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13
Q

Most common ASD in DOWN SYNDROME IN CHILDREN

A

Ostium secundum

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14
Q

Antenatal

AFP value of approximately 0.7 MoM

HCG level of approximately 2.0 MoM

Unconjugated estriol concentration of approximately 0.8 MoM

A

TRIPLE TEST

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15
Q

A fourth marker, dimeric inhibin alpha was added values of about 1.8 MoM are reported in DOWN SYNDROME

A

QUAD TEST

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16
Q

Neurofibrillary tangle (NFT)

Amyloid plaques

  • both composed of protein TAU
A

Alzheimers Disease

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17
Q

Trisomy 18

A

EDWARDS SYNDROME

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18
Q

Severe MR

Rocker bottome feet

Low set ears

Micrognathia

CHD

Clenched hands (flexion of fingers)
Overlapping flexed fingers

Prominent occiput

Death within 1 year

A

EDWARDS SYNDROME

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19
Q

47XX or XY+18

A

EDWARDS SYNDROME

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20
Q

Second most common autosomal trisomy after trisomy 21

A

EDWARDS SYNDROME

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21
Q

Trisomy 13

A

PATAU SYNDROME

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22
Q

47XX or XY+13

A

PATAU SYNDROME

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23
Q

Trisomy 13

A

PATAU SYNDROME

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24
Q

MULTIPLE CONGENITAL ANOMALIES

Severe MR

Microphthalmia

Microcephaly

Cleft palate/lip

Polydactyly

Congenital heart disease

Death occurs within 1 year of birth

A

PATAU SYNDROME

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25
Q

Taken with misoprostol

A

PATAU SYNDROME

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26
Q

Cholesterol transport across liver cell impaired

A

FAMILIAL HYPERCHOLESTEROLEMIA

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27
Q

HDL receptor defect

A

TANGIERS DISEASE

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28
Q

47XX or XY+21

A

DOWN SYDNROME

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29
Q

LDL receptor defect

A

FAMILIAL HYPERCHOLESTEROLEMIA

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30
Q

Deficiency of a-galactosidase A

A

FABRY’s DISEASE

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31
Q

Deficiency of b-glucocerebrosidase

A

GAUCHERS DISEASE

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32
Q

Deficiency of sphingomyelinase

A

NIEMANN-PICK DISEASE

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33
Q

Absent HEXOSAMINIDASE A deficiency

A

TAY-SACH’ S DISEASE

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34
Q

Deficiency of alpha-L iduronidase

A

HURLER’s DISEASE

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35
Q

Deficiency of iduronate-2-sulfatase

A

HUNTER’s DISEASE

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36
Q

Erlemeyer flask appearance

A

GAUCHERS DISEASE

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37
Q

Crumpled paper or tissue appearance

A

GAUCHERS DISEASE

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38
Q

Deficiency of HEXOSAMINIDASE A and B

A

SANDHOFF DISEASE

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39
Q

Fibrillin-1 defect

A

MARFAN SYNDROME

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40
Q

D/O causing ICTOPIA LENTIS

A

MARFAN SYNDROME and HOMOCYSTINURIA

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41
Q

Sublaxation of lenses

A

ICTOPIA LENSES

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42
Q

Classical hypermobility

A

EHLERS DANLOS SYNDROME

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43
Q

Defective collagen (type 1,3 and 5)

A

EHLERS DANLOS SYNDROME

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44
Q

What collagen is OSTEOGENESIS IMPERFECTA

A

Type 1

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45
Q

Skeletal features:

  • most striking feature
  • unusually tall with long, thin extremities (dolichostenomelia)
  • long tapering fingers and toes with spider-like appearance (arachnodactyly)
A

MARFANS SYNDROME

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46
Q

Cardiovascular features:

  • most life threatening feature
  • 2 common lesions: mitral valve prolapse, dilation of the ascending medionecrosis
A

MARFANS SYNDROME

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47
Q

First one to be described HOMOGENTISIC ACID

A

ALCAPTONURIA

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48
Q

HOMOGENTISIC ACID OXIDASE deficiency

A

ALCAPTONURIA

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49
Q

Pigmentation of sclera

A

OSLERS SIGN

Note: OSLER’S NODE - Infective Endocarditis

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50
Q

Black urine

Black nails (OCHRONOSIS)

Black skin

Black joint cartilage (severe arthritis)

A

ALCAPTONURIA

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51
Q

Happy puppet syndrome

A

ANGELMAN SYNDROME

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52
Q

Chromosome 15

A

ANGELMAN SYNDROME and PRADER-WILLI SYNDROME

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53
Q

Chromosome 17

A

VON RECKLINGHAUSEN

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54
Q

Obesity, small stature, hyperphagia and mental retardation

Deletion of chromosome 15

A

PRADER WILLI SYNDROME

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55
Q

Hereditary motor and sensory neuropathy (HMSN)

A

CHARCOT MARIE TOOTH DISEASE

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56
Q

Peroneal muscular atrophy (PMA)

A

CHARCOT MARIE TOOTH DISEASE

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57
Q

Most common peripheral neuropathy worldwide

A

CHARCOT MARIE TOOTH DISEASE

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58
Q

70-80% is the duplication of a large regiom on the short arm of chromosome 17 that includes the gene PMP22

A

CHARCOT MARIE TOOTH DISEASE

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59
Q

Foot drop

High arched foot

Stork legs

Hammer toes

A

CHARCOT MARIE TOOTH DISEASE

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60
Q

Ataxia, nystagmus, kyphoscoliosis and pes cavus

Chromosome 9

A

FRIEDREICH ATAXIA

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61
Q

Frataxin gene

A

FRIEDREICH ATAXIA

62
Q

46XX or XY,5pb

A

CRI DU CHAT SYNDROME

63
Q

Deletion of the short arm of chromosomes

A

CRI DU CHAT SYNDROME

64
Q

High pitched cat-like cry

Mental retardation

Congenital heart disease

Microcephaly

A

CRI DU CHAT SYNDROME

65
Q

Due to dynein arm defect

A

KARTAGENER’S SYNDROME

66
Q

Hepatolenticular degeneration due to decreases levels of CERULOPLASMIN

A

WILSON’s DISEASE

67
Q

Copper accumulation (CERUPLASMIN)

A

WILSON’s disease and MENKES DISEASE

68
Q

Kayser-Fleischer Rings

A

WILSON’S DISEASE

69
Q

Causes CHOREA or involuntary movements

A

Rheumatic fever

Huntingtons disease

Wilsons disease

70
Q

Male XXY or 47XXY

A

KLINEFELTERS SYNDOME

71
Q

The extra (inactive X chromosome BARR BODY)

A

KLINEFELTERS SYNDOME

72
Q

Elevated FSH and LH

low levels of testosterone

73
Q

Female XO or 45XO

A

TURNER’S SYNDROME

74
Q

Short stature, ovarian dysgenesis, webbed neck, coarctatiom of aorta

Common cause of amenorrhea

A

TURNER’S SYNDROME

75
Q

Female hypogonadism

Second X chromosome is necessary for oogenesis and normal development of ovary

No BARR BODY present

A

TURNER’S SYNDROME

76
Q

Most common sex chromosome and abnormality in females

A

TURNER’S SYNDROME

77
Q

Male hypogonadism

A

KLINEFELTER’S SYNDROME

78
Q

Cafe au lait spots

A

VON RECKLINGHAUSEN and McCUNE ALBRIGHT

79
Q

Bilateral tinnitus and deafness

A

ACOUSTIC SCHWANOMA

80
Q

CANT SEE -UVEITIS

CANT PEE - URETHRITIS

CANT CLIMB A TREE - ARTHRITIS

A

REITER’S SYNDROME

81
Q

Seronegative spondyloarthropathy

HLA-B27

A

REITER’S SYDNROME

82
Q

Both causing uveitis

A

REITER’S SYDROME and BEHCET DISEASE

83
Q

Monogenetic disorder

Average life span: 28 yrs old

Chronic airway infection

A

CYSTIC FIBROSIS

84
Q

Colon becomes covered with adenomatous polyps after puberty

A

FAMILIAL ADENOMATOUS POLYPOSIS (FAP)

85
Q

Testicular atrophy

Infertility due to azoospermia

Eunuchoid body habitus

High-pitched voice

Female distribution of hair

Gynecomastia

A

KLINEFELTER’S SYNDROME

86
Q

Failure to develop secondary sex characteristics

Short stature bilateral

Atrophic “steaked” ovaries

Primary amenorrhea

Infertility

A

TURNERS SYNDROME

87
Q

Clinical manifestations at birth:

Congenital lymph edema

Redundant skin folds

Webbing of the neck

A

TURNERS SYNDROME

88
Q

Broad chest and widely spaced nipples

Cubitus valgus (outward)

Pigmented nevi

Constriction of aorta (coarctation of the aorta)

A

TURNERS SYNDROME

89
Q

Chromosome 5

A

FAMILIAL ADENOMATOUS POLYPOSIS

90
Q

Chromosome 7

A

CYSTIC FIBROSIS

91
Q

Absence of HGPRTase

A

LESCH-NYLAN SYNDROME

92
Q

Lacks NUCLEOTIDE SALVAGE (purine)

A

LESCH-NYLAN SYNDROME

93
Q

Autosomal dominant

A

HUNTINGTON DS

NEUROFIBROMATOSIS

MYOTONIC DYSTROPHY

TUBEROUS SCLEROSIS

POLYCYSTIC KIDNEY

HEREDITARY SPHEROCYTOSIS

VON WILLEBRAND DS

MARFAN SYNDROME

EHLERS DANLOS

OSTEOGENESIS IMPERFECTA

ACHONDROPLASIA

FAMILIAL HYPERCHOLESTEROLEMIA

ACUTE INTERMITTENT PORPHYRIA

94
Q

Floppy valve syndrome

A

MARFANS SYNDROME

95
Q

Cystic medionecrosis

A

MARFANS SYNDROME

96
Q

Defects in both humoral and cell mediated immune response

Thrush (oral candidiasis), extensive diaper rash and failure to thrive

Morbiliform rash appears shortly after birth

Death occurs if BM transplant is not done within 1sy year of life

97
Q

Most common form 50-60% X Linked with a mutation in the common y-chain (yc) subunit of cytokine receptors

98
Q

Autosomal recessive

Deficiency of enzyme adenosine deaminase (ADA) - accumulation of deoxyadenosine

99
Q

Small thymus devoid of lymphocytes

100
Q

Most frequent SCID phenotype

40-50%

Absence of both T and NK cells

A

X-Linked (cytokine-signaling deficiency)

101
Q

10-20%

Lymphopenia occurs from the death of T and B cells

A

ADA deficiency

102
Q

X-linked recessive

Immunodeficiency with THROMBOCYTOPENIA and ECZEMA

Patients often have prolonged bleeding from the circumcision site or bloody diarrhea durinf infancy

Atopic dermatitis and recurrent infections occur during the 1st year of life

A

WISKOTT-ALDRICH SYNDROME

103
Q

Thrombocytopenia, eczema and marked vulnerability to recurrent infections

A

WISKOTT-ALDRICH SYNDROME

104
Q

Low IgM

Normal IgG

High IgE and IgA

A

WISKOTT-ALDRICH SYNDROME

105
Q

Autosomal recessive

Increased susceptibility to infections owing to defective degranulation of neutrophils

A

CHEDIAK-HIGASHI SYNDROME

106
Q

Mild bleeding diathesis, partial oculocutaneous ALBINISM, progressive peripheral neuropathy and a tndency to develop a life threatening lymphoma like syndrome

A

CHEDIAK-HIGASHI SYNDROME

107
Q

Group of disorders of granulocyte and monocyte oxidative metabolism

A

CHRONIC GRANULOMATOUS DISEASE

108
Q

Inherited as an X-linked recessive trait

30% of patients inherit the disease in an autosomal recessive pattern

A

CHRONIC GRANULOMATOUS DISEASE

109
Q

Caused by defective production of reactive oxygen species (ROS) in the phagolysosome membrane following phagocytosis of microorganisms

A

CHRONIC GRANULOMATOUS DISEASE

110
Q

Because of a deletion this cannot be detected by standard karyotyping and needs FISH

A

CHROMOSOME 22q11.2 (DELETION SYNDROME)

111
Q

X LINKED CONDITIONS

A

Duchenne muscular dystrophy

Hemophilia A and B

G6PD Deficiency

Agammaglobulinemia

Wiskott-Aldrich Syndrome

Diabetes Insipidus

Lesch-Nylan Syndrome

Fragile-X Syndrome

112
Q

Monogenetic disorder

Avwrage life span: 28 years old

Chronic airway infection: BRONCHITIS, BRONCHIECTASIS, EXOCRINE PANCREATIC INSUFFICIENCY, INTESTINAL DYSFUNCTION, ABNORMAL SWEAT GLAND FUNCTION, UROGENITAL DYSFUNCTION

A

CYSTIC FIBROSIS

113
Q

Enzyme defect which inceases drug susceptibility

A

G6PD ⬅️ PRIMAQUINE

114
Q

AUTOSOMAL DOMINATN CONDITIONS

A

Huntingtons disease

Neurofibromatosis

Myotonic dystrophy

Tuberous sclerosis

Polycystic kidney

Hereditary spherocytosis

Von Willebrand disease

Marfan Syndrome

Ehlers-Danlos Syndrome

Osteogenesis Imperfecta

Anchondroplasia

Familial Hypercholemia

Acute Intermittent Porphyria

115
Q

AUTOSOMAL RECESSIVE

A

Cystic fibrosis

PKU

Galactosemia

Homocystinuria

Lysosomal storage

A-1 antitrypsin

Wilson disease

Hemochromatosis

Glycogen storage diseases

Hgb S

Thalassemias

Congenital adrenal hyperplasia

Ehlers Danlos

Alkaptonuria

Neurogenic muscle atrophies

Friedreich ataxia

Spinal muscular atrophy

116
Q

Hepatolenticulqr degeneration due to decreased levels of ceruloplasmin

A

WILSONS DISEASE

117
Q

Characterized by ABCD:
ASTERIXIS

BASAL GANGLIA DEGENERATION

CERULOPLASMIN ⬇️

Cirrhosis

Corneal deposits

Chorea

Dementia

A

WILSONS DISEASE

118
Q

Most common form of childhood muscular dystrophy

A

DUCHENNE MUSCULAR DYSTROPHY

119
Q

Dystrophin

A

DUCHENNE MUSCULAR DYSTROPHY

120
Q

96% frameshift mutation

30% with new mutation

A

DUCHENNE MUSCULAR DYSTROPHY

121
Q

Gowers sign

A

DUCHENNE MUSCULAR DYSTROPHY

122
Q

Pseudohypertrophy

A

DUCHENNE MUSCULAR DYSTROPHY

123
Q

Bilateral acoustic neuromas

A

NEUROFIBROMATOSIS TYPE 2

124
Q

Neurofibromatosis type 1

A

VON RECKLINGHAUSEN

125
Q

Cafe au lait spots

Lisch nodules

A

VON RECKLINGHAUSEN

126
Q

Milder form of DUCHENNE

A

BECKERS MUSCULAR DYSTROPHY

127
Q

Sex linked recessive disorder

Xp21

A

BECKERS MUSCULAR DTSTROPHY

128
Q

Partial deletion of the gene coding for dystrophin

A

BECKERS MUSCULAR DYSTROPHY

129
Q

Dystrophin is partially present, muscle membrane

Semi functional

Higher chance if susceptibility

A

BECKERS MUSCULAR DYSTROPHY

130
Q

Steinert’s Disease

A

MYOTONIA DYSTROPHICA

131
Q

PDA

Congenital cataracts
Sensory neural hearing loss
Cardiac problem

A

CONGENITAL RUBELLA SYNDROME

132
Q

Carp mouth

Frontal bossing

CTG REPEAT

A

MYOTONIC DYSTROPHY

133
Q

Myotonia

Muscle stiffness

Muscle hypertrophy

Herculean appearance

A

MYOTONIA CONGENITA/THOMSENS DISEASE

134
Q

Gene mutation encoding chloride channel

Autosomal dominant

A

MYOTONIA CONGENITA or THOMSENS DISEASE

135
Q

Ceramide triihexoside

A

FABRYS DISEASE

136
Q

Intactable neonatal hypoglycemia

Macroglossia

Omphalocoele

Facial nevus flammeus

Earlobe creases

A

BECKWITH-WIEDEMANN SYNDROME

137
Q

Progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, telangiectasis of the skin and conjuctivae

A

ATAXIA-TELANGIECTASIA

138
Q

Cerebellar hemangioblastomas

Multiple congenital cysts kidney

Associated with renal ca

A

VON HIPPEL LINDAU DISEASE

139
Q

Self injurious behavior and self mutilation

A

LESCH NYLAN SYNDROME

140
Q

Progressive external ophthalmoplegia involving all extra ocular muscles

Pigmentary degeneration of the retina (retinitis pigmentosa)

Bony specule appearance

A

KEARNS-SAYRE SYNDROME

141
Q

Most frequent mitochondrial disease of the perinatal period and early infancy

Diffuse encephalopathy

A

LEIGH ENECEPHALOPATHY (SUBACUTE PERIVENTRICULAR NECROTIZING ENCEPHALOPATHY)

142
Q

Calcification of the basal ganglia

Present with Parkinsons

A

FAMILIAL IDIOPATHIC or FAHR DS

143
Q

Pipecolate oxidase

A

ZELLWEGER DISEASE or PEROXISOMAL DISORDER or CEREBROHEPATORENAL

144
Q

Abnormal very long chain fatty acid metabolism

145
Q

Lipogranulomatosis

146
Q

Ceramide deficiency

147
Q

Hoarse cry due to fixation of laryngeal cartilage

148
Q

Periarticular and subcutaneous swellings and progressive arthropathy

149
Q

Marked enlargement of liver

Vacuolated histiocytes “FOAM CELLS” in the bone marrow

A

NIEMANN PICK DS

150
Q

Required to convert phenylalanine to tyrosine

A

TETRAHYDROBIOPTERIN

151
Q

Most common cause of genital ambiguity

A

CONGENITAL ADRENAL HYPERPLASIA

TOP THE BOARDS!!!!!! (23 decks)

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