Turner syndrome is a condition of females who, in the classic form, carry only a single X chromosome (45,X). The most common examples of these chromosomal abnormalities are down syndrome, Klinefelter syndrome, and Turner syndrome. A kid suffering from Down Syndrome. View large Download PPT. Ultimately, this leads to having too much or too little genetic material. Enjoy the videos and music you love, upload original content, and share it all with friends, family, and the world on YouTube. Karyotype. How do scientists study chromosomes? The high sensitivity and specificity of FISH and the speed with which the assays can be performed have made FISH a pivotal cytogenetic technique that has provided significant advances in both the research and diagnosis of haematological malignancies and solid tumours. Abnormalities can also occur when a person is missing part of a sex chromosome (called a deletion). Chromosomal abnormalities are one of the primary causes of miscarriage during the first trimester. Chromosomal abnormalities in the fertilized egg can halt cell growth and … This consists of a failure in the chromosome pairs or the chromatids to separate in the first or second meiotic divisions or during … Isochromosomes are abnormal chromosomes with identical arms - either two short (p) arms or two long (q) arms. In heterozygous translocation, one member of each pair of chromosomes … Presentation Summary : Structural abnormalities. Males have one X and a smaller Y 1. Structural chromosome abnormalities occur when there is a change in the structure or parts of a chromosome. Risk Factors for Abnormalities . Slight alterations to genes on the chromosomes may produce new traits such as bigger claws that may be beneficial to survival. From Junquiera, Basic Histology, McGraw Hill, 2003. Chromosomal Disorders - Solon City School District PPT. Very often, chromosome abnormalities give rise to specific physical symptoms, however, the severity of these can vary from individual to individual. CHROMOSOMES carry most of the genetic material and therefore they: carry inherited traits carry the organisation of the cell life heredity: each pair of homologues consists of one paternal and one maternal chromosome --> diploidy (2 lots). Let us look at these three examples in detail: Down syndrome: This syndrome is a type of trisomy as there is an extra copy of chromosome 21. Times New Roman Default Design Cytogenetics PowerPoint Presentation Chromosomal Disorders History Cytogenetic Technology Metaphase spread Prometaphase spread Banding nomenclature Chromosome morphology Ideogram of human chromosomes Human karyotype PowerPoint Presentation Fluorescence in situ hybridization FISH Locus-specific probes Centromeric probes … Structural chromosome abnormalities occur when part of a chromosome is missing, a part of a chromosome is extra, or a part has switched places with another part. Chromosomal disorders form a category of human genetic diseases, that are manifested by developmental and reproductive abnormalities, as well as playing an important role in the pathogenesis of malignancy. The most frequent cause of numerical disorders in chromosomes tends to be nondisjunction. Presentation Summary : Can lead to disorders OR be beneficial to the organism. Chromosomal abnormalities occur when there is a defect in a chromosome, or in the arrangement of the genetic material on the chromosome. Chromosomal abnormalities may be produced by: mitosis deregulating factors that produce DNA tears or affects replication chemical factors physical factors, as ionizing radiations … Chromosomal abnormalities typically do not recur unless one or both parents has a balanced translocation or similar genetic issue. These chromosomes are found in pairs. Trisomy 21 causes Down syndrome. Pallister-Killian syndrome is an example of a condition resulting from the presence of an isochromosome. The test examines the baby's DNA in the mother's blood. The chromosomal abnormalities may occur either during the production of the egg or sperm or early after the baby's conception: a 2,3 spontaneous occurrence for unknown reasons . It is from an atypical range of chromosomes or a structural abnormality in one or additional chromosomes. 2. 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