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Genetic Disorders -- Diseases of the Immune System

pathology mcqs questions

Questions starts with :-

Hereditary retinoblastoma develop as a result of which of the followin...

Subject :-


Correct answer :- *** Hidden ***

Explanation :-

chromosome 13q14. Retinoblastoma gene is a tumor suppressor gene, which serves as a break on the advancement of cells from the G1 to S phase of cell cycle. Ref: Robbins Path

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2013-04-08 20:21:46
Hereditary retinoblastoma develop result following chromosomal deletion 13q 13p 1414p 1314q Hereditary retinoblastomas develop fromdeletionRb gene located chromosome 13q14 Retinoblastoma gene istumor suppressor gene serves asbreak onadvancementcells fromG1 phasecell cycle Ref: Robbins Pathologic BasisDisease 7th Edition Pages 287 289 1372
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Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System

following pan-T lymphocyte marker 1CD 19CD Lymphocytes differentiated basis cell surface markers (CD cluster differentiation markers) using monoclonal antibodies markers CD2 and TCR found all cells and referred pan cell markers CD3 cell marker found expressed thymocytes peripheral cells and cells Ref: Robbins Pathologic Basis Disease 6th Edition Page 654; Immunology Infection and Immunity Gerald Bryan Pier Page 59; Textbook Neonatal Haematology Oncology Lokeshwa Page .......

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System

albino girl gets married normal boy chances them having affected child and chances having children who carriers All normal50% carriersNone affected all carriers 50% affected 50% carriersAlbinism autosomal recessive disorder Autosomal recessive disorders expressed only homozygous states both alleles should mutant represents normal allele represents mutant allele represents the father who normal and represents mother who affected From the pedigree given below all children carriers (Aa) none them affected Ref: Harrison's Principles Internal Medicine 17th Edition Page 2332; Diseases and Disorders Marshall Cavendish Corporation Volume Page 29; Fitzpatrick's Dermatology General Medicine Klaus Wolff 7th Edition Chapter .......

Which the following karyotype seen nineteen year old female with short statur

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System

following karyotype seen nineteen year old female with short stature wide spread nipples and primary amenorrhoea XX+1846 XXY47 XXY45 Patient described question most likely case Turner’s syndrome indicated clinical features Turner's syndrome results from complete partial loss one chromosome resulting the karyotype 45X primarily characterized hypogonadism phenotypic females Ref: Robbins Pathologic Basis Disease 6th Edition Page 174-5 .......

middle aged married lady gives you history repeated abortions for the past year

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System

middle aged married lady gives you history repeated abortions for past years You decided chromosome study The conceptus pre-natal karyogram given below does karyotype indicate Klienfelter's syndromeTurner's syndromeDown's syndrome Patau's syndrome karyogram presence one and chromosome indicate that conceptus was male and presence third chromosome 21st pair indicate trisomy Hence fetus was case Downs syndrome Ref: Robbins Pathologic Basis Disease 6th Edition Page 171 .......

Which the following procedures used routine technique for karyotyping using lig

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System

following procedures used routine technique for karyotyping using light microscopy bandingG- banding bandingV- staining Giemsa stain most commonly used staining method that allow identification each individual chromosome basis distinctive and reliable pattern alternate light and dark bands along length chromosome Since giemsa stain used procedure called banding Ref: Robbins Pathologic Basis Disease 6th Edition Pages 165-6.......

Which type Amyloidosis caused the mutation transthyretin protein? Dialysi

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System

type Amyloidosis caused mutation transthyretin protein Dialysis associated amyloidosisFamilial Mediterranean feverFamilial amyloidotic polyneuropathy Prion protein associated amyloidosisFamilial amyloidotic polyneuropathy associated with mutation plasma transthyretin Transthyretin 127 aminoacid residue single chain polypeptide that made liver binds transports thyroxine retinol FAP autosomal dominant disease characterized distal proximal symmetric polyneuropathy addition severe autonomic neuropathy sensory and motor nerves also affected Clinical features: Symptoms disease begins fourth and fifth decade and characterized autonomic dysfunction polyneuropathy occasional cardiomyopathy and renal failure until death Ref: Principles Surgical Practice Kingsnorth Page 286.......

All the following are associated with the development fibrinoid necrosis except:

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System

All following associated with development fibrinoid necrosis except: Aschoff noduleMalignant hypertensionPolyarteritis nodosaDiabetic glomerulosclerosisFibrinoid necrosis not seen diabetic glomerulosclerosis Diabetic glomeruloscleros characterized increased amount connective tissue mesangium arise consequence glucose and insulin derangements diabetes diabetes vessels shows hyalinizing arteriosclerosis Histologically identified mesangial nodules connective tissue surrounded glomerular capillary loops The nodular changes called Kimmelsteil Wilson disease specific for diabetic nephropathy Ref: Hardcore Pathology Carter Wahl Page 85; Pathology Secrets E-Book Ivan Damjanov 3rd Edition; Encyclopedia Heart Diseases Gabriel Khan Page 101; Diagnostic Criteria Autoimmune Diseases Yehuda Shoenfeld Page 89; Rubin's Pathology: Clinicopathologic Foundations Medicine Raphael Rubin 6th Edition Page .......

Which the following condition associated with Aschoff nodules? Rheumatic cardit

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System

following condition associated with Aschoff nodules Rheumatic carditis Libman-Sacks endocarditis Subacute bacterial endocarditis Non-bacterial Thrombotic endocarditis Aschoff nodule pathognomonic histological lesion seen rheumatic fever not seen first 3-4 weeks acute rheumatic fever Mature aschoff nodules 1mm 1cm size consist perivascular infiltrate aschoff’s cells and antischkow cells arranged rosette around avascular center fibrinoid Other cells found aschoff body polymorphonuclear cells and lymphocytes Ashcoff cell has 1-5 nuclei and basophilic cytoplasm Antischkow cell uninucleate cell with eosinophilic cytoplasm normally present heart but due active inflammation acute rheumatic fever increase cytoplasm leads owl eyed appearance cell Ref: Handbook Rheumatic Fever Alok Ranjan Page Rubin's Pathology: Clinicopathologic Foundations Medicine Raphael Rubi 6th Edition Page 514 Internal Medicine: Illustrated Radiological Guide Jarrah Ali Al-Tubaikh Page 176 .......

Familial Mediterranean fever, the gene encoding for which the following protein unde

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System

Familial Mediterranean fever gene encoding for following protein undergoes mutation Pyrin PerforinTransthyretinImmunoglobulin light chain Familial Mediterranean fever gene coding for pyrin protein mutated Five missence mutations identified These mutations give rise amino acid substitutions carboxyterminal part pyrin protein Pyrin protein expressed solely neutrophils found large numbers inflammatory sites during FMF attacks Ref: Cloning: Chronology Abstracts and Guide Books Stephen Fairbanks Page 94; Physical Basis Biochemistry: Foundations Molecular Biophysics Peter Bergethon Page 545; Principles Surgical Practice Kingsnorth Page 286 .......

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