Cytogenetics Review Questions
Jump to navigation
Jump to search
Lecture 1
Expand List the three broad categories of clinical indications for chromosomal analysis.
|
---|
Expand Which family members should have chromosomal analysis?
|
---|
Expand List 5 prenatal indications for cytogenetics analysis.
|
---|
Expand What are the indications for chromosomal analysis of products of conception?
|
---|
Expand Compare amniocentesis and chorionic villus sampling with regards to gestational age, complication rate, turn around time, and false results
|
---|
Expand What are the clinical indications for tissue sampling instead of blood for cytogenetic analysis?
|
---|
Expand List 8 standard techniques for cytogenetics analysis.
|
---|
Expand List 5 Molecular cytogenetics techniques.
|
---|
Expand What is g-banding?
|
---|
Expand Outline the general procedure for cytogenetics study.
|
---|
Expand Broadly what at the three main morphological groups of chromosomes?
|
---|
Expand What are the 4 minimum items included in a standard banding nomenclature?
|
---|
Expand What are the clinical indications for an individual to have chromosomal analysis?
|
---|
Expand What is q-banding?
|
---|
Expand What is R-banding?
|
---|
Expand What is C-banding?
|
---|
Expand What is NOR?
|
---|
Expand List the metacentric chromosomes.
|
---|
Expand List the submetacentric chromosomes.
|
---|
Expand List the acrocentric chromosomes.
|
---|
Expand What is Bloom syndrome?
|
---|
Expand What is SCE (Sister chromatid exchange?
|
---|
Expand What is DAPI staining?
|
---|
Expand Explain how chromosomal breakage studies are used to diagnose Fanconi's anemia.
|
---|
Lecture 2
Expand Describe the 4 steps of mitosis.
|
---|
Expand List the 8 steps of meiosis.
|
---|
Expand What is the main difference between constitutional and acquired chromosome anomalies.
|
---|
Expand What at the three main categories of patient features associated with unbalanced constitutional chromosomal anomalies?
|
---|
Expand What is meant by a homogeneous chromosomal anomaly?
|
---|
Expand What is meant by a mosaic chromosomal anomaly?
|
---|
Expand What are chromosomal polymorphisms?
|
---|
Expand List 3 known chromosomal polymorphisms, according to ISCN 2013.
|
---|
Expand Classify numerical abnormalities of chromosomes.
|
---|
Expand What are the four main types of abnormalities in chromosome structure?
|
---|
Expand What is the key difference between a balanced and an unbalanced chromosomal rearrangement?
|
---|
Expand List three types of balanced chromosomal rearrangements.
|
---|
Expand List three unbalanced numerical chromosomal rearrangements.
|
---|
Expand List 5 structural unbalanced chromosomal rearrangements.
|
---|
Expand What is the karyotype for a female infant with cri-du-chat?
|
---|
Lecture 3
Expand What is FISH?
|
---|
Expand When is interphase FISH more helpful than metaphase?
|
---|
Expand What is the approximate resolution of cytogenetic FISH?
|
---|
Expand What are the three types of FISH probes?
|
---|
Expand List 7 applications of FISH technology?
|
---|
Expand List 5 microdeletion syndromes.
|
---|
Expand Briefly describe Cri-du Chat Syndrome
|
---|
Expand Describe 3 mechanisms by which uniparental disomy occurs.
|
---|
Expand What is imprinting?
|
---|
Expand Which chromosomes are known to have imprinted genes?
|
---|
Expand Describe Prader-Willi Syndrome.
|
---|
Expand Briefly describe Williams Syndrome.
|
---|
Expand Describe DeGeorge Syndrome.
|
---|
Expand What is SKY?
|
---|
Expand What kinds of chromosomal transformations is SKY used for?
|
---|
Expand What are thelimitations of SKY?
|
---|
Expand Explain the basic principle of Comparative Genomic Hybridization.
|
---|
Expand How do CGH arrays work?
|
---|
Lecture 4
Expand List 3 solid tumours for which cancer cytogenetics are currently used in prognosis and treatment.
|
---|
Expand What is a chromosomal instability syndrome?
|
---|
Expand What are the features of ataxia telangiectasia?
|
---|
Expand What is Nijmegen Breakage Syndrome?
|
---|
Expand What is Bloom syndrome?
|
---|
Expand What is Xeroderma pigmentosum?
|
---|
Expand What is Fanconi Anemia?
|
---|
Expand What is ICF Syndrome?
|
---|
Expand What is Roberts Syndrome?
|
---|
Expand What karytype is most at risk of gonadoblastoma?
|
---|
Expand What cancer are Kleinfelters patients at increased risk of?
|
---|
Expand What lymphoproliferative disorders are associated with Down's Syndrome?
|
---|
{{hidden|
Lecture 5
Miscellaneous
Expand What are the steps in preparing a cytogenetics tissue specimen?
|
---|
Expand What is Allerdice or Sandy Point Syndrome?
|
---|
Expand What is the most common robertsonian translocation?
|
---|
Expand What is the most common non-robertsonian translocation?
|
---|
Expand What is a marker chromosome?
|
---|
Expand What is the most common chromosomal abnormality in humans?
|
---|
Expand What is the most common cause of triploidy?
|
---|
Expand What is the recurrence risk for parents of Down's syndrome child with a "free chromosome"?
|
---|
Expand List 5 features of Trisomy 8.
|
---|
Expand List 5 features of Trisomy 9.
|
---|
Expand List 5 features of Trisomy 13.
|
---|
Expand List 5 features of Trisomy 14.
|
---|
Expand List 5 features of Trisomy 18.
|
---|
Expand List 5 features of Trisomy 21.
|
---|
Expand What is the most common outcome of a pregnancy when the parent has a balanced translocation?
|
---|