Chromosomal abnormalities can be numerical or structural. Numerical abnormalities include polyploidy, having more than two sets of chromosomes, and aneuploidy, having an extra or missing copy of a single chromosome. Structural abnormalities involve changes in chromosome structure, such as deletions, duplications, inversions, and translocations. Chromosomal abnormalities can result in conditions like Down syndrome and cause birth defects or spontaneous abortion. The document discusses different types of chromosomal abnormalities and disorders in detail.
Chromosomal abnormalities can be numerical or structural. Numerical abnormalities include polyploidy, having more than two sets of chromosomes, and aneuploidy, having an extra or missing copy of a single chromosome. Structural abnormalities involve changes in chromosome structure, such as deletions, duplications, inversions, and translocations. Chromosomal abnormalities can result in conditions like Down syndrome and cause birth defects or spontaneous abortion. The document discusses different types of chromosomal abnormalities and disorders in detail.
Chromosomal abnormalities can be numerical or structural. Numerical abnormalities include polyploidy, having more than two sets of chromosomes, and aneuploidy, having an extra or missing copy of a single chromosome. Structural abnormalities involve changes in chromosome structure, such as deletions, duplications, inversions, and translocations. Chromosomal abnormalities can result in conditions like Down syndrome and cause birth defects or spontaneous abortion. The document discusses different types of chromosomal abnormalities and disorders in detail.
CHROMOSOMES ABNORMALITIES Polyploid – many organisms have
more than two sets of homologous Causes of birth defect Spontaneous chromosomes Abortion are: - a chromosome number o Chromosomal abnormalities that is a multiple of haploid number o Genetic factors of (23) other than a diploi number; Ploidy – number of sets of e.g. 69 chromosomes. o Triploidy – generally results from o n – Monoploidy/ Haploidy DISPERMY: ferlitization of the egg o 2n – Diploidy by 2 sperm simultaneuosly. o 3n – Triploidy o Tetraploidy – very rare and o 4n – Tetraploidy always lethal o 5n – Pentaploidy – usually due to o 6n – Hexaploidy failure of first mitotic division: o 7n – Heptaploidy chromosomes replicate and Euploid – whole set divide, but all end up in the same Haploid – sex cells; “n” ( in normal nucleus gametes) Diploid – “2n” ( in normal somatic cells) ANEUPLOID
CHROMOSOMAL ABNORMALITIES Aneuploid – is any chromosomes
number that is not a euploid. Can occur during meiotic or mitotic Aneuploid Karyotypes are given names division with the suffix “-somy” ( rather than - Two (2) Types: ploidy, used for Euploid Karyotypes), o Numerical – number such as Trisomy and Monosomy. o Structural – structure of chromosomes ANEUPLOIDY Three (3) Basic Types Aneuploidy – is an abnormal number of o Polyploidy – having more than 2 chromosomes such as having a single sets of chromosomes extra chromosome (45). o Aneuploidy – having an extra Two (2) Causes: copy or a missing copy of a single o Non-disjuction: paired dhajaba chromosome. ( NOTE: equal chromosomes both go to the same numbers of all chromosomes is pole in meiosis instead of to euploid) opposite poles. o Mixoploidy – having cell lines with o Anaphase lag: a chromosome dfferent chromosomal institutions. moves to the pole so slowly that it o Mosaic – derived from a doesn’t get incorporated into the songle zygote nucleu as it form in telophase. o Chimeras – derived from the fusion of 2 different DISTINCTION BET. ANEUPLOIDY AND embryos POLYPLOIDY
Aneuploidy refers to a numerical
change in part of the chromosome set, whereas Polyploidy refers to a POLYPLOID numerical change in the whole set of chromosomes.
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NUMERICAL CHROMOSOMAL Chromosomal Deletion – when cells
ABNORMALITIES go through meiosis, portions of the chromosomes are loses Meiotic Non Disjunction Chromosomal Inversion – when cells o May involve autosomes or sex go through meiosis, parts of the chromosomes chromosome are flipped o In females incidence increases Chromosomal Translocation – when with age 35 years or more cells go through meiosis, parts of the o Meiosis I: two members of chromosome stick together and switch homologous chromosomes fails to separate and both members of a Chromosmal Non- Disjunction – when pair move into one cell cells go through meiosis, the o Meiosis II: when sister chromatids chromosomes don’t separate correctly fal to separate and either too many or not eanough are passed on Mitotic Non Disjuntion o Mosaicism: CHROMOSOMAL DISORDERS o Some cells have abnormal chromosomal number and Occur when the chromosome’s structure others have normal is altered, this can tae several forms: o Occurs in the earlieast cell translocation, deletion or duplication divisions of chromosomes. o Affected individuals exhibit Chromosomes breaks occur either as a characteristics of a particular result of damage to DNA (by radiation or syndrome; e.g. down chemicals) or as part of the mechanism syndrome in 1% cases of recombination Chromosomal Translocations However, the total number of o When a portion of one chromosomes is usually normal chromosome is transferred to SINGLE CHROMOSOME DISORDER another non homologous chromosome and a fusion gene is Deletion – genetic material is missing created. Duplication – genetic material is o Two (2) Main Types of present twice Translocation: Inversion – genetic material is flipped o Balanced: an even exchange of material with no genetic TYPE OF CHROMOSOME DISORDER information is extra or Deletion – breaks in chromosomes; missing, and individual is deleted genetic material normal. Ring Chromosome – the two ends o Unbalanced: where the which are the telomeres are deleted exchange of genetic material Isochromosome – reduplicated; is unequal and part of one unusual crossover of chromatid chromosome is lost & altered Balanced Translocation – one phenotype is produced segment transferred to another equally (Down’s Syndrome – 4% Paracentric Inversion – only certain cases) region or part is involved, either of qar or CHROMOSOMAL DISORDERS p-arm or the centromere
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TWO CHROMOSOME DISORDERS
Insertion –material is added from
another chromosome Translocation – material is swapped with another chromosome HUMAN CHROMOSOMAL
Numerical ( Chromosomal Disorders)
o Trisomy: 3 copies of single chromosome 47 o Monosomy: 1 copy of a single chromosome 45 o Triploidy: 3N o Tetraploidy: 4N Structural ( Chromosomal Disorders) o Deletion o Duplication o Translocation ( involves 2 chromosomes) CAUSES OF CHROMOSOMAL DISORDER
Radiation Autoimmunity Virus infection Chemical toxins