Chromosomal Abnormalities
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Chromosomal Abnormalities - Marcador
Chromosomal Abnormalities - Detalles
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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 |
| What do you get if there is non-disjunction at Meiosis I | 2( N+1 ) and 2 ( n-1 ) |
| 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 |