Difference between revisions of "Cytogenetics Review Questions"
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{{hidden|Which family members should have chromosomal analysis?|1. Both parents of a child with structural chromosome rearrangement, deletion, duplication, and 2. all family members at risk of having a chromosome rearrangement.}} | {{hidden|Which family members should have chromosomal analysis?|1. Both parents of a child with structural chromosome rearrangement, deletion, duplication, and 2. all family members at risk of having a chromosome rearrangement.}} | ||
{{hidden|List 5 prenatal indications for cytogenetics analysis.|1. Advanced maternal age (Greater than 35 years old) | {{hidden|List 5 prenatal indications for cytogenetics analysis.| | ||
*1. Advanced maternal age (Greater than 35 years old) | |||
*2. Previous pregnancy with chromosomal disorder | |||
*3. One parent is a known carrier (or other relative*) | |||
*4. Couples at risk of x-linked disorders for which a molecular test is not available | |||
*5. Fetal defects on ultrasound, | |||
*6. Prenatal screen high risk pregnancies | |||
*7. couples with 2+ spontaneous abortions | |||
*8. infertility. }} | |||
{{hidden|What are the indications for chromosomal analysis of products of conception?|1)Abortuses (missed abortions) of unknown reason, 2)Malformed stillbirths, 3)Stillbirth of undetermined etiology}} | {{hidden|What are the indications for chromosomal analysis of products of conception?|1)Abortuses (missed abortions) of unknown reason, 2)Malformed stillbirths, 3)Stillbirth of undetermined etiology}} | ||
{{hidden|Compare amniocentesis and chorionic villus sampling with regards to gestational age, complication rate, turn around time, and false results|}} | {{hidden|Compare amniocentesis and chorionic villus sampling with regards to gestational age, complication rate, turn around time, and false results|}} |
Revision as of 15:06, 27 May 2015
Unit 1
Expand List the three broad categories of clinical indications for chromosomal analysis.
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Expand Which family members should have chromosomal analysis?
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Expand List 5 prenatal indications for cytogenetics 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 Cri-du Chat Syndrome
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Expand Describe 3 mechanisms by which uniparental disomy occurs.
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Expand What is imprinting?
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Expand Which chromosomes are known to have imprinted genes?
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Expand Describe Prader-Willi Syndrome.
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Expand Briefly describe Williams Syndrome.
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Expand Describe DeGeorge Syndrome.
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Expand What is SKY?
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Expand What kinds of chromosomal transformations is SKY used for?
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Expand What are three limitations of SKY?
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Expand Explain the basic principle of Comparative Genomic Hybridization.
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Expand How do CGH arrays work?
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Unit 4
Miscellaneous
Expand What is Allerdice or Sandy Point Syndrome?
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Expand What is the most common robertsonian translocation?
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Expand What is the most common non-robertsonian translocation?
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Expand What is a marker chromosome?
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Expand What is the most common chromosomal abnormality in humans?
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Expand What is the most common cause of triploidy?
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Expand What is the recurrence risk for parents of Down's syndrome child with a "free chromosome"?
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Expand List 5 features of Trisomy 8.
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Expand List 5 features of Trisomy 9.
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Expand List 5 features of Trisomy 13.
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Expand List 5 features of Trisomy 14.
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Expand List 5 features of Trisomy 18.
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Expand List 5 features of Trisomy 21.
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Expand What is the most common outcome of a pregnancy when the parent has a balanced translocation?
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Peripheral Blood Culture and Harvest
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