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level: Level 1

Questions and Answers List

level questions: Level 1

QuestionAnswer
What is karyotypingAnalysis of chromosomes to detect any abnormalities Karyotype --> complete set of chromosomes of a person
What are source cells for karyotypingBone marrow ( luekemia only ) Blood Solid tissues Amniotic fluid Chorion villus sampling
What are the different types of chromosomesMetacentric Sub-metacentric Acrocentric ( D and G )
What are some indications for karyotypingRecurrent fetal loss Birth defects Family history Materanal age is over 35 Leukemia Abnormal sexual development Infertility
What are some benefits for karyotypingAccurate diagnosis and prognosis Better management plan Understanding the risk of reproduction for carriers Possible termination of inflicted pregnancies
What is polyploidyThis is when there is a multiple of the haploid number and greater then the diploid number e.g. 3n 69,XXX This is because of more than one sperm fertilising a single egg
What is AneuploidyThis is when it is not a multiple of the haploid Monosomy --> loss of 1 homologous chromosome Trisomy --> gain one homologous chromosome Can happen in both sex chromosomes and others
What is anaphase lagSome chromosomes can be left behind due to defects in the mitotic spindle fibres
What do you get if there is non-disjunction at Meiosis I2( N+1 ) and 2 ( n-1 )
Non-disjunction at Meiosis II( n+1 ) ( n-1 ) (n ) ( n )
What is Trisomy 21Down syndrome 47,XX,+21 Clinical features : Intellectual disability CHD Hearing/eye disorders Haemotological malignancies Infertility Hypothyroidism
Trisomy 18Edwards Syndrome 47,XX,+18 More common in girls Kidney and Heart Problems Learning difficulties Growth retardation Breathing problems
Trisomy 13Patau's syndrome 47,XY,+13 More common in boys Multiple abnormalities Severe learning difficulties Polydactyly
What is Turner's syndromeMonosomy 45,X X chromosome inactivation Short stature Infertility Webbed neck Heart defects
Triple X syndrome?47,XXX Tall stature Small head Motor delayed skills Seen after puberty
Double Y syndrome47,XYY Often not diagnosed Tall stature Lower IQ Normal testorsterone and fertile Behavioral problems
Klinnefelter syndrome47,XXY Decrease testesterone Increase breast tissue Language and reading impairment