Chromosomal disorder Numerical Aberrations Outline v Definition o

Chromosomal disorder Numerical Aberrations

Outline v. Definition o. F chromosomal disorders v. Introduction of Numerical Aberrations v. Types of Chromosomal Abnormalities v. Autosomal Aneuploidies v. Sex Chromosome Aneuploidies v. References

Outline v. Definition o. F chromosomal disorders Introduction of Numerical Aberrations Types of Chromosomal Abnormalities Autosomal Aneuploidies Sex Chromosome Aneuploidies References

Definition o. F chromosomal disorders • A chromosomal disorder occurs when there is a change in the number or structure of the chromosomes. • This change in the amount, or arrangement of, the genetic information in the cells may result in problems in growth, development and/or functioning of the body systems.

Outline Definition o. F chromosomal disorders v. Introduction of Numerical Aberrations Types of Chromosomal Abnormalities Autosomal Aneuploidies Sex Chromosome Aneuploidies References

Introduction of Numerical Aberrations v. There are two main types of chromosomal disorders: • Numerical Aberrations-: changes in chromosome number. • Structural Aberrations-: changes in chromosome structure.

Introduction of Numerical Aberrations v Numerical aberrations represent a significant proportion of chromosomal changes found in humans. 1. Constitutive (present in all cells) due to meiosis. 2. Mosaic (present in some cells) due to mitosis They represent a significant cause of pregnancy loss as well as abnormalities found in live births.

Outline Definition o. F chromosomal disorders Introduction of Numerical Aberrations v. Types of Chromosomal Abnormalities Autosomal Aneuploidies Sex Chromosome Aneuploidies References

Types of Chromosomal Abnormalities v. Types of Chromosomal Abnormalities: 1. aneuploidy. 2. Polyploidy. aneuploidy Polyploidy

Types of Chromosomal Abnormalities v Aneuploidy : Variation in the number of particular chromosomes within a set 1. Hyperploidy- gain of chromosome/s. ( Trisomy- 2 n + 1) , (Double trisomy- 2 n + 1 +1), (Tetrasomy- 2 n + 2 2) 2. Hypoploidy- loss of chromosome/s ( Monosomy- 2 n – 1) (Double monosomy- 2 n – 1 -1 ) (Nullisomy- 2 n-2)

Types of Chromosomal Abnormalities v. Polyploidy : Condition in which the cells have more than 2 homologous sets of chromosome. 1. triploid (3 n) 2. tetraploid (4 n) 3. Pentaploid (5 n)

Types of Chromosomal Abnormalities

Outline Definition o. F chromosomal disorders Introduction of Numerical Aberrations Types of Chromosomal Abnormalities v. Autosomal Aneuploidies Sex Chromosome Aneuploidies References

Autosomal Aneuploidies There a lot of Autosomal Aneuploidies diseases , the commen diseases include : Patau’s Syndrome - Trisomy 13 Edward’s Syndrome – Trisomy 18 Down Syndrome - Trisomy 21

Autosomal Aneuploidies (Patau’s Syndrome) • Patau’s Syndrome - Trisomy 13 • Severe intellectual disability. • Physical abnormalities in in many parts of the body. • • Heart defects, brain and spinal cord abnormalities. Very small or poorly developed eyes Extra fingers or toes. Weak muscle tone (hypotonia).

Autosomal Aneuploidies (Patau’s Syndrome)

Autosomal Aneuploidies (Edward’s Syndrome) • Edward’s Syndrome – Trisomy 18 • intestines protruding outside the body. • intellectual disabilities. • delayed development. • feeding and breathing difficulties. • Arthrogryposis - a muscle disorder that causes multiple joint contractures at birth.

Autosomal Aneuploidies (Edward’s Syndrome)

Autosomal Aneuploidies (down’s Syndrome) • Down Syndrome - Trisomy 21 • physical growth delays. • severe degree of intellectual disability. • short stature. • delayed mental and social development. • Impulsive behavior. • Short attention span. • Slow learning. • Dementia - decline in mental ability severe enough to interfere with daily life, memory loss

Autosomal Aneuploidies (down’s Syndrome)

Outline Definition o. F chromosomal disorders Introduction of Numerical Aberrations Types of Chromosomal Abnormalities Autosomal Aneuploidies v. Sex Chromosome Aneuploidies References

Sex Chromosome Aneuploidies There a lot of Sex Aneuploidies diseases , the commen diseases include : Klinefelter Syndrome – 47, XXY Jacob Syndrome – 47, XYY Turner Syndrome – 47, X Triple X Syndrome (Superfemale)

Sex Chromosome Aneuploidies (Klinefelter Syndrome – 47, XXY) • • Sterile. No obvious facial dysmorphy. Narrower shoulders and wider hips. Smaller testes and penis. Decreased sexual interest. Weaker bones. Breast growth.

Sex Chromosome Aneuploidies (Klinefelter Syndrome – 47, XXY)

Sex Chromosome Aneuploidies ( Jacob Syndrome – 47, XYY) • Aggressive due to high level of testosterone (prone to violent wife beating). • Adult male could be more impulsive and emotionally immature.

Sex Chromosome Aneuploidies ( Jacob Syndrome – 47, XYY)

Sex Chromosome Aneuploidies (Turner Syndrome – 47, X ) • Aneuploidy of the sex chromosome. • demonstrate visuospatial deficits including poor handwriting and likely underdeveloped arithmetic skills. • Short stature. • Ovarian failure. • otitis media. • early OM in TS could lead in dyslexia.

Sex Chromosome Aneuploidies (Turner Syndrome – 47, X )

Sex Chromosome Aneuploidies Triple X Syndrome (Superfemale) • • Chromosome complement: 47, XXX. Phenotype: Female. Normal in appearance. Difficulty in speech and learning Infertility. Expressionless face. Enamel hypoplasia. Deficient language skills.

Outline Definition o. F chromosomal disorders Introduction of Numerical Aberrations Types of Chromosomal Abnormalities Autosomal Aneuploidies Sex Chromosome Aneuploidies v. References

References www. presentationszone. com www. med. unc. edu http: //web. udl. es https: //en. wikipedia. org http: //amazinggracegolf. com/ www. pinterest. com https: //palmreadingperspectives. wordpress. com http: //www 2. biology. uoc. gr/