Difference between revisions of "Cytogenetics Review Questions"
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{{hidden|List 7 applications of FISH technology?| 1) Microdeletion syndromes, 2) Characterization of chromosomal structural abnormalities, 3) identification of marker chromosomes, 4) Aneuploidy detection, 5) Cancer cytogenetics, 6) Gene mapping, 7)Rapid detection of sex chromosomes and the SRY gene}} | {{hidden|List 7 applications of FISH technology?| 1) Microdeletion syndromes, 2) Characterization of chromosomal structural abnormalities, 3) identification of marker chromosomes, 4) Aneuploidy detection, 5) Cancer cytogenetics, 6) Gene mapping, 7)Rapid detection of sex chromosomes and the SRY gene}} | ||
{{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)}} |
Revision as of 16:25, 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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