Difference between revisions of "Cytogenetics Review Questions"
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{{hidden|List 5 microdeletion syndromes.|[[List of Microdeletion Syndromes]]}} | {{hidden|List 5 microdeletion syndromes.|[[List of Microdeletion Syndromes]]}} | ||
{{hidden|Briefly describe William's Syndrome.|Deletion of one elastin allele (7q11.23 = 96% of cases), multi-system d/o characterized by: Growth & developmental delay, characteristic facies & personality, supra valvular stenosis, idiopathic infantile hypercalcemia (connective tissue / vascular)}} | {{hidden|Briefly describe William's Syndrome.|Deletion of one elastin allele (7q11.23 = 96% of cases), multi-system d/o characterized by: Growth & developmental delay, characteristic facies & personality, supra valvular stenosis, idiopathic infantile hypercalcemia (connective tissue / vascular)}} | ||
{{hidden|Briefly describe Williams Syndrome.|Deletion of one elastin allele (7q11.23 = 96% of cases), multi-system d/o characterized by: Growth & developmental delay, characteristic facies & personality, supra valvular stenosis, idiopathic infantile hypercalcemia (connective tissue / vascular)}} |
Revision as of 16:27, 22 May 2015
Unit 1
Expand List the three broad categories of clinical indications for chromosomal analysis.
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Expand List 5 prenatal indications for cytogenetics analysis.
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Expand Which family members should have chromosomal analysis?
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Expand What are the indications for chromosomal analysis of products of conception?
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Expand Compare amniocentesis and chorionic villus sampling with regards to gestational age, complication rate, turn around time, and false results
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Expand What are the clinical indications for tissue sampling instead of blood for cytogenetic analysis?
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Expand List 8 standard techniques for cytogenetics analysis.
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Expand List 5 Molecular cytogenetics techniques.
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Expand What is g-banding?
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Expand Outline the general procedure for cytogenetics study.
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Expand Broadly what at the three main morphological groups of chromosomes?
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Expand What are the 4 minimum items included in a standard banding nomenclature?
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Expand What are the clinical indications for an individual to have chromosomal analysis?
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Expand What is q-banding?
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Expand What is R-banding?
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Expand What is C-banding?
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Expand What is NOR?
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Expand List the metacentric chromosomes.
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Expand List the submetacentric chromosomes.
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Expand List the acrocentric chromosomes.
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Expand What is Bloom syndrome?
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Expand What is SCE (Sister chromatid exchange?
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Expand What is DAPI staining?
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Expand Explain how chromosomal breakage studies are used to diagnose Fanconi's anemia.
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Unit 2
Expand Describe the 4 steps of mitosis.
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Expand List the 8 steps of meiosis.
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Expand What is the main difference between constitutional and acquired chromosome anomalies.
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Expand What at the three main categories of patient features associated with unbalanced constitutional chromosomal anomalies?]1) dysmophy, 2) Visceral malformations, 3) developmental/psychomotor delay.
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Expand What is meant by a homogeneous chromosomal anomaly?
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Expand What is meant by a mosaic chromosomal anomaly?
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Expand What are chromosomal polymorphisms?
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Expand List 3 known chromosomal polymorphisms, according to ISCN 2013.
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Expand Classify numerical abnormalities of chromosomes.
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Expand What are the four main types of abnormalities in chromosome structure?
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Expand What is the key difference between a balanced and an unbalanced chromosomal rearrangement?
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Expand List three types of balanced chromosomal rearrangements.
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Expand List three unbalanced numerical chromosomal rearrangements.
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Expand List 5 structural unbalanced chromosomal rearrangements.
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Expand What is the karyotype for a female infant with cri-du-chat?
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Unit 3
Expand What is FISH?
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Expand When is interphase FISH more helpful than metaphase?
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Expand What is the approximate resolution of cytogenetic FISH?
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Expand What are the three types of FISH probes?
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Expand List 7 applications of FISH technology?
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Expand List 5 microdeletion syndromes.
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Expand Briefly describe William's Syndrome.
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Expand Briefly describe Williams Syndrome.
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