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Chromosomal Abnormalities


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[Front]


What is karyotyping
[Back]


Analysis of chromosomes to detect any abnormalities Karyotype --> complete set of chromosomes of a person

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What is karyotyping
Analysis of chromosomes to detect any abnormalities Karyotype --> complete set of chromosomes of a person
What are source cells for karyotyping
Bone marrow ( luekemia only ) Blood Solid tissues Amniotic fluid Chorion villus sampling
What are the different types of chromosomes
Metacentric Sub-metacentric Acrocentric ( D and G )
What are some indications for karyotyping
Recurrent fetal loss Birth defects Family history Materanal age is over 35 Leukemia Abnormal sexual development Infertility
What are some benefits for karyotyping
Accurate diagnosis and prognosis Better management plan Understanding the risk of reproduction for carriers Possible termination of inflicted pregnancies
What is polyploidy
This 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 Aneuploidy
This 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 lag
Some chromosomes can be left behind due to defects in the mitotic spindle fibres
Non-disjunction at Meiosis II
( n+1 ) ( n-1 ) (n ) ( n )
What is Trisomy 21
Down syndrome 47,XX,+21 Clinical features : Intellectual disability CHD Hearing/eye disorders Haemotological malignancies Infertility Hypothyroidism
Trisomy 18
Edwards Syndrome 47,XX,+18 More common in girls Kidney and Heart Problems Learning difficulties Growth retardation Breathing problems
Trisomy 13
Patau's syndrome 47,XY,+13 More common in boys Multiple abnormalities Severe learning difficulties Polydactyly
What is Turner's syndrome
Monosomy 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 syndrome
47,XYY Often not diagnosed Tall stature Lower IQ Normal testorsterone and fertile Behavioral problems
Klinnefelter syndrome
47,XXY Decrease testesterone Increase breast tissue Language and reading impairment