Difference between revisions of "Cytogenetics Review Questions"
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{{hidden|What is the most common cause of triploidy?|Dispermy in 60%}} | {{hidden|What is the most common cause of triploidy?|Dispermy in 60%}} | ||
{{hidden|What is the recurrence risk for parents of Down's syndrome child with a "free chromosome"?|1%}} | {{hidden|What is the recurrence risk for parents of Down's syndrome child with a "free chromosome"?|1%}} | ||
{{hidden|List 5 features of Trisomy 8.| | {{hidden|List 5 features of Trisomy 8.| | ||
*1. Prominent cup-shaped ears | *1. Prominent cup-shaped ears | ||
Line 225: | Line 226: | ||
*6. Joint abnormalities | *6. Joint abnormalities | ||
*7. Usually mosaic }} | *7. Usually mosaic }} | ||
{{hidden|List 5 features of Trisomy 9.|}} | |||
{{hidden|List 5 features of Trisomy 13.|}} | {{hidden|List 5 features of Trisomy 9.| | ||
{{hidden|List 5 features of Trisomy 14.|}} | *1. Growth deficiency (prenatal) | ||
{{hidden|List 5 features of Trisomy 18.|}} | *2. Deep-set eyes | ||
{{hidden|List 5 features of Trisomy 21.|}} | *3. Low-set, misshapen ears | ||
*4. Small lower jaw causes upper lip to overlap lower lip | |||
*5. Joint abnormalities | |||
*6. Heart and kidney abnormalities | |||
*7. Small genitalia (males) | |||
*8. Most have severe mental retardation | |||
*9. Usually mosaic}} | |||
{{hidden|List 5 features of Trisomy 13.| | |||
*1. Cleft lip and/or palate | |||
*2. Low set, misshapen ears | |||
*3. Small eyes | |||
*4. Hemangioma(s) on the face/forehead | |||
*5. Defective lateral differentiation of the brain (some have holoprosencephaly) | |||
*6. Sixth finger on ulnar side of hand | |||
*7. Heart and kidney abnormalities | |||
*8. Cryptorchidism in male; bicornate uterus in females | |||
*9. Severe mental retardation}} | |||
{{hidden|List 5 features of Trisomy 14.| | |||
*1. Normal weight but short length at birth | |||
*2. Narrow deep-set eyes | |||
*3. Short, bulbous nose | |||
*4. Small lower jaw | |||
*5. Low-set, misshapen ears | |||
*6. Heart abnormalities | |||
*7. Severe mental retardation | |||
*8. Usually mosaic }} | |||
{{hidden|List 5 features of Trisomy 18.| | |||
*1. Growth deficiency (prenatal) | |||
*2. Prominent occiput | |||
*3. Small mouth and jaw | |||
*4. Low-set, misshapen ears | |||
*5. Short sternum | |||
*6. Clenched hand | |||
*7. Short big toe, often flexed upward | |||
*8. Rocker-bottom" feet | |||
*9. Small pelvis with limited hip movement | |||
*10. Heart abnormalities | |||
*11. Severe mental retardation}} | |||
{{hidden|List 5 features of Trisomy 21.| | |||
*1. Flat face | |||
*2. Brushfield spots present when eyes are blue | |||
*3. Upslanting eyes | |||
*4. Small ears | |||
*5. Small mouth (with tongue often protruding) | |||
*6. short fingers (especially fifth | |||
*7. Heart abnormalities in some cases | |||
*8. IQ usually 25-50 but occasionally higher}} | |||
{{hidden|What is the most common outcome of a pregnancy when the parent has a balanced translocation?|Misscarriage}} | {{hidden|What is the most common outcome of a pregnancy when the parent has a balanced translocation?|Misscarriage}} | ||
==Peripheral Blood Culture and Harvest== | ==Peripheral Blood Culture and Harvest== |
Latest revision as of 15:55, 5 August 2015
Lecture 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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Lecture 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?
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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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Lecture 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 thelimitations 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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Lecture 4
Expand List 3 solid tumours for which cancer cytogenetics are currently used in prognosis and treatment.
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Expand What is a chromosomal instability syndrome?
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Expand What are the features of ataxia telangiectasia?
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Expand What is Nijmegen Breakage Syndrome?
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Expand What is Bloom syndrome?
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Expand What is Xeroderma pigmentosum?
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Expand What is Fanconi Anemia?
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Expand What is ICF Syndrome?
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Expand What is Roberts Syndrome?
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Expand What karytype is most at risk of gonadoblastoma?
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Expand What cancer are Kleinfelters patients at increased risk of?
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Expand What lymphoproliferative disorders are associated with Down's Syndrome?
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{{hidden|
Lecture 5
Miscellaneous
Expand What are the steps in preparing a cytogenetics tissue specimen?
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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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