👨👩👧👦 Genetics D/O Flashcards
1
Q
Trisomy 21
A
DOWN SYNDROME
2
Q
Most common chromosomal disorder and cause of congenital mental retardation
A
DOWN SYNDROME
3
Q
95% due to MEIOTIC NONDISJUNCTION of homologous chromosomes
A
DOWN SYNDROME
4
Q
Advanced maternal age (>45.y.o.) (35-40)
A
DOWN SYNDROME
5
Q
Most common preventable congenital mental retardation
A
CREETINISM
6
Q
Mongoloid facies features (flat faced, low bridged nose and epicanthal folds)
A
DOWN SYNDROME
7
Q
Brushfield spots-speckled appearance of the iris
Muscular hypotonia
A
DOWN SYNDROME
8
Q
Simian crease or palmar crease
A
DOWN SYNDROME
9
Q
Alzheimer’s disease in >35 years old (in adults)
A
DOWN SYNDROME
10
Q
Most common malformation of DOWN SYNDROME
A
ENDOCARDIAL CUSHION DEFECT
11
Q
Increase risk of ACUTE LYMPHOBLASTIC LEUKEMIA (in children)
A
DOWN SYNDROME
12
Q
Most common ASD in DOWN SYNDROME in adults
A
Ostium primum
13
Q
Most common ASD in DOWN SYNDROME IN CHILDREN
A
Ostium secundum
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
15
Q
A fourth marker, dimeric inhibin alpha was added values of about 1.8 MoM are reported in DOWN SYNDROME
A
QUAD TEST
16
Q
Neurofibrillary tangle (NFT)
Amyloid plaques
- both composed of protein TAU
A
Alzheimers Disease
17
Q
Trisomy 18
A
EDWARDS SYNDROME
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
19
Q
47XX or XY+18
A
EDWARDS SYNDROME
20
Q
Second most common autosomal trisomy after trisomy 21
A
EDWARDS SYNDROME
21
Q
Trisomy 13
A
PATAU SYNDROME
22
Q
47XX or XY+13
A
PATAU SYNDROME
23
Q
Trisomy 13
A
PATAU SYNDROME
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
25
Taken with misoprostol
PATAU SYNDROME
26
Cholesterol transport across liver cell impaired
FAMILIAL HYPERCHOLESTEROLEMIA
27
HDL receptor defect
TANGIERS DISEASE
28
47XX or XY+21
DOWN SYDNROME
29
LDL receptor defect
FAMILIAL HYPERCHOLESTEROLEMIA
30
Deficiency of a-galactosidase A
FABRY's DISEASE
31
Deficiency of b-glucocerebrosidase
GAUCHERS DISEASE
32
Deficiency of sphingomyelinase
NIEMANN-PICK DISEASE
33
Absent HEXOSAMINIDASE A deficiency
TAY-SACH' S DISEASE
34
Deficiency of alpha-L iduronidase
HURLER's DISEASE
35
Deficiency of iduronate-2-sulfatase
HUNTER's DISEASE
36
Erlemeyer flask appearance
GAUCHERS DISEASE
37
Crumpled paper or tissue appearance
GAUCHERS DISEASE
38
Deficiency of HEXOSAMINIDASE A and B
SANDHOFF DISEASE
39
Fibrillin-1 defect
MARFAN SYNDROME
40
D/O causing ICTOPIA LENTIS
MARFAN SYNDROME and HOMOCYSTINURIA
41
Sublaxation of lenses
ICTOPIA LENSES
42
Classical hypermobility
EHLERS DANLOS SYNDROME
43
Defective collagen (type 1,3 and 5)
EHLERS DANLOS SYNDROME
44
What collagen is OSTEOGENESIS IMPERFECTA
Type 1
45
Skeletal features:
- most striking feature
- unusually tall with long, thin extremities (dolichostenomelia)
- long tapering fingers and toes with spider-like appearance (arachnodactyly)
MARFANS SYNDROME
46
Cardiovascular features:
- most life threatening feature
- 2 common lesions: mitral valve prolapse, dilation of the ascending medionecrosis
MARFANS SYNDROME
47
First one to be described HOMOGENTISIC ACID
ALCAPTONURIA
48
HOMOGENTISIC ACID OXIDASE deficiency
ALCAPTONURIA
49
Pigmentation of sclera
OSLERS SIGN
Note: OSLER'S NODE - Infective Endocarditis
50
Black urine
Black nails (OCHRONOSIS)
Black skin
Black joint cartilage (severe arthritis)
ALCAPTONURIA
51
Happy puppet syndrome
ANGELMAN SYNDROME
52
Chromosome 15
ANGELMAN SYNDROME and PRADER-WILLI SYNDROME
53
Chromosome 17
VON RECKLINGHAUSEN
54
Obesity, small stature, hyperphagia and mental retardation
Deletion of chromosome 15
PRADER WILLI SYNDROME
55
Hereditary motor and sensory neuropathy (HMSN)
CHARCOT MARIE TOOTH DISEASE
56
Peroneal muscular atrophy (PMA)
CHARCOT MARIE TOOTH DISEASE
57
Most common peripheral neuropathy worldwide
CHARCOT MARIE TOOTH DISEASE
58
70-80% is the duplication of a large regiom on the short arm of chromosome 17 that includes the gene PMP22
CHARCOT MARIE TOOTH DISEASE
59
Foot drop
High arched foot
Stork legs
Hammer toes
CHARCOT MARIE TOOTH DISEASE
60
Ataxia, nystagmus, kyphoscoliosis and pes cavus
Chromosome 9
FRIEDREICH ATAXIA
61
Frataxin gene
FRIEDREICH ATAXIA
62
46XX or XY,5pb
CRI DU CHAT SYNDROME
63
Deletion of the short arm of chromosomes
CRI DU CHAT SYNDROME
64
High pitched cat-like cry
Mental retardation
Congenital heart disease
Microcephaly
CRI DU CHAT SYNDROME
65
Due to dynein arm defect
KARTAGENER'S SYNDROME
66
Hepatolenticular degeneration due to decreases levels of CERULOPLASMIN
WILSON's DISEASE
67
Copper accumulation (CERUPLASMIN)
WILSON's disease and MENKES DISEASE
68
Kayser-Fleischer Rings
WILSON'S DISEASE
69
Causes CHOREA or involuntary movements
Rheumatic fever
Huntingtons disease
Wilsons disease
70
Male XXY or 47XXY
KLINEFELTERS SYNDOME
71
The extra (inactive X chromosome BARR BODY)
KLINEFELTERS SYNDOME
72
Elevated FSH and LH
low levels of testosterone
BARR BODY
73
Female XO or 45XO
TURNER'S SYNDROME
74
Short stature, ovarian dysgenesis, webbed neck, coarctatiom of aorta
Common cause of amenorrhea
TURNER'S SYNDROME
75
Female hypogonadism
Second X chromosome is necessary for oogenesis and normal development of ovary
No BARR BODY present
TURNER'S SYNDROME
76
Most common sex chromosome and abnormality in females
TURNER'S SYNDROME
77
Male hypogonadism
KLINEFELTER'S SYNDROME
78
Cafe au lait spots
VON RECKLINGHAUSEN and McCUNE ALBRIGHT
79
Bilateral tinnitus and deafness
ACOUSTIC SCHWANOMA
80
CANT SEE -UVEITIS
CANT PEE - URETHRITIS
CANT CLIMB A TREE - ARTHRITIS
REITER'S SYNDROME
81
Seronegative spondyloarthropathy
HLA-B27
REITER'S SYDNROME
82
Both causing uveitis
REITER'S SYDROME and BEHCET DISEASE
83
Monogenetic disorder
Average life span: 28 yrs old
Chronic airway infection
CYSTIC FIBROSIS
84
Colon becomes covered with adenomatous polyps after puberty
FAMILIAL ADENOMATOUS POLYPOSIS (FAP)
85
Testicular atrophy
Infertility due to azoospermia
Eunuchoid body habitus
High-pitched voice
Female distribution of hair
Gynecomastia
KLINEFELTER'S SYNDROME
86
Failure to develop secondary sex characteristics
Short stature bilateral
Atrophic "steaked" ovaries
Primary amenorrhea
Infertility
TURNERS SYNDROME
87
Clinical manifestations at birth:
Congenital lymph edema
Redundant skin folds
Webbing of the neck
TURNERS SYNDROME
88
Broad chest and widely spaced nipples
Cubitus valgus (outward)
Pigmented nevi
Constriction of aorta (coarctation of the aorta)
TURNERS SYNDROME
89
Chromosome 5
FAMILIAL ADENOMATOUS POLYPOSIS
90
Chromosome 7
CYSTIC FIBROSIS
91
Absence of HGPRTase
LESCH-NYLAN SYNDROME
92
Lacks NUCLEOTIDE SALVAGE (purine)
LESCH-NYLAN SYNDROME
93
Autosomal dominant
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
Floppy valve syndrome
MARFANS SYNDROME
95
Cystic medionecrosis
MARFANS SYNDROME
96
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
SCID
97
Most common form 50-60% X Linked with a mutation in the common y-chain (yc) subunit of cytokine receptors
SCID
98
Autosomal recessive
Deficiency of enzyme adenosine deaminase (ADA) - accumulation of deoxyadenosine
SCID
99
Small thymus devoid of lymphocytes
SCID
100
Most frequent SCID phenotype
40-50%
Absence of both T and NK cells
X-Linked (cytokine-signaling deficiency)
101
10-20%
Lymphopenia occurs from the death of T and B cells
ADA deficiency
102
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
WISKOTT-ALDRICH SYNDROME
103
Thrombocytopenia, eczema and marked vulnerability to recurrent infections
WISKOTT-ALDRICH SYNDROME
104
Low IgM
Normal IgG
High IgE and IgA
WISKOTT-ALDRICH SYNDROME
105
Autosomal recessive
Increased susceptibility to infections owing to defective degranulation of neutrophils
CHEDIAK-HIGASHI SYNDROME
106
Mild bleeding diathesis, partial oculocutaneous ALBINISM, progressive peripheral neuropathy and a tndency to develop a life threatening lymphoma like syndrome
CHEDIAK-HIGASHI SYNDROME
107
Group of disorders of granulocyte and monocyte oxidative metabolism
CHRONIC GRANULOMATOUS DISEASE
108
Inherited as an X-linked recessive trait
30% of patients inherit the disease in an autosomal recessive pattern
CHRONIC GRANULOMATOUS DISEASE
109
Caused by defective production of reactive oxygen species (ROS) in the phagolysosome membrane following phagocytosis of microorganisms
CHRONIC GRANULOMATOUS DISEASE
110
Because of a deletion this cannot be detected by standard karyotyping and needs FISH
CHROMOSOME 22q11.2 (DELETION SYNDROME)
111
X LINKED CONDITIONS
Duchenne muscular dystrophy
Hemophilia A and B
G6PD Deficiency
Agammaglobulinemia
Wiskott-Aldrich Syndrome
Diabetes Insipidus
Lesch-Nylan Syndrome
Fragile-X Syndrome
112
Monogenetic disorder
Avwrage life span: 28 years old
Chronic airway infection: BRONCHITIS, BRONCHIECTASIS, EXOCRINE PANCREATIC INSUFFICIENCY, INTESTINAL DYSFUNCTION, ABNORMAL SWEAT GLAND FUNCTION, UROGENITAL DYSFUNCTION
CYSTIC FIBROSIS
113
Enzyme defect which inceases drug susceptibility
G6PD ⬅️ PRIMAQUINE
114
AUTOSOMAL DOMINATN CONDITIONS
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
AUTOSOMAL RECESSIVE
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
Hepatolenticulqr degeneration due to decreased levels of ceruloplasmin
WILSONS DISEASE
117
Characterized by ABCD:
ASTERIXIS
BASAL GANGLIA DEGENERATION
CERULOPLASMIN ⬇️
Cirrhosis
Corneal deposits
Chorea
Dementia
WILSONS DISEASE
118
Most common form of childhood muscular dystrophy
DUCHENNE MUSCULAR DYSTROPHY
119
Dystrophin
DUCHENNE MUSCULAR DYSTROPHY
120
96% frameshift mutation
30% with new mutation
DUCHENNE MUSCULAR DYSTROPHY
121
Gowers sign
DUCHENNE MUSCULAR DYSTROPHY
122
Pseudohypertrophy
DUCHENNE MUSCULAR DYSTROPHY
123
Bilateral acoustic neuromas
NEUROFIBROMATOSIS TYPE 2
124
Neurofibromatosis type 1
VON RECKLINGHAUSEN
125
Cafe au lait spots
Lisch nodules
VON RECKLINGHAUSEN
126
Milder form of DUCHENNE
BECKERS MUSCULAR DYSTROPHY
127
Sex linked recessive disorder
Xp21
BECKERS MUSCULAR DTSTROPHY
128
Partial deletion of the gene coding for dystrophin
BECKERS MUSCULAR DYSTROPHY
129
Dystrophin is partially present, muscle membrane
Semi functional
Higher chance if susceptibility
BECKERS MUSCULAR DYSTROPHY
130
Steinert's Disease
MYOTONIA DYSTROPHICA
131
PDA
Congenital cataracts
Sensory neural hearing loss
Cardiac problem
CONGENITAL RUBELLA SYNDROME
132
Carp mouth
Frontal bossing
CTG REPEAT
MYOTONIC DYSTROPHY
133
Myotonia
Muscle stiffness
Muscle hypertrophy
Herculean appearance
MYOTONIA CONGENITA/THOMSENS DISEASE
134
Gene mutation encoding chloride channel
Autosomal dominant
MYOTONIA CONGENITA or THOMSENS DISEASE
135
Ceramide triihexoside
FABRYS DISEASE
136
Intactable neonatal hypoglycemia
Macroglossia
Omphalocoele
Facial nevus flammeus
Earlobe creases
BECKWITH-WIEDEMANN SYNDROME
137
Progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, telangiectasis of the skin and conjuctivae
ATAXIA-TELANGIECTASIA
138
Cerebellar hemangioblastomas
Multiple congenital cysts kidney
Associated with renal ca
VON HIPPEL LINDAU DISEASE
139
Self injurious behavior and self mutilation
LESCH NYLAN SYNDROME
140
Progressive external ophthalmoplegia involving all extra ocular muscles
Pigmentary degeneration of the retina (retinitis pigmentosa)
Bony specule appearance
KEARNS-SAYRE SYNDROME
141
Most frequent mitochondrial disease of the perinatal period and early infancy
Diffuse encephalopathy
LEIGH ENECEPHALOPATHY (SUBACUTE PERIVENTRICULAR NECROTIZING ENCEPHALOPATHY)
142
Calcification of the basal ganglia
Present with Parkinsons
FAMILIAL IDIOPATHIC or FAHR DS
143
Pipecolate oxidase
ZELLWEGER DISEASE or PEROXISOMAL DISORDER or CEREBROHEPATORENAL
144
Abnormal very long chain fatty acid metabolism
ZELLWEGER
145
Lipogranulomatosis
FABRY DS
146
Ceramide deficiency
FABRY DS
147
Hoarse cry due to fixation of laryngeal cartilage
FARBER DS
148
Periarticular and subcutaneous swellings and progressive arthropathy
FABRY DS
149
Marked enlargement of liver
Vacuolated histiocytes "FOAM CELLS" in the bone marrow
NIEMANN PICK DS
150
Required to convert phenylalanine to tyrosine
TETRAHYDROBIOPTERIN
151
Most common cause of genital ambiguity
CONGENITAL ADRENAL HYPERPLASIA
