CHANGES IN CHROMOSOME NUMBER: Alternation in chromosomal may be of two types Aneuploidy and Polyploidy.

. Aneuploidy: It involves the gain or loss of one or more chromosomes. Most of the hazards of chromosomal number take place at anaphase. Usually there are 23 pairs of chromosomes (46 in total) in all the body cells except the egg and sperm. The different conditions of aneuploidy are:

1. Nullisomy - the loss of both pairs of homologous chromosomes; individuals are called nullisomics
and their chromosomal composition is 2N-2

2. Monosomy - the loss of a single chromosome; individuals are called monosomics and their 3. 4.
chromosomal composition is 2N-1 Trisomy - the gain of an extra copy of a chromosome; individuals are called trisomics and their chromosomal composition is 2N+1 Tetrasomic - the gain of an extra pair of homologous chromosomes; individuals are called tetrasomics and their chromosomal composition is 2N+2

In addition to these conditions, more than one pair of homologous chromosomes may be involved. For example, a double monosomic is missing one chromosome from each of two pair of homologous chromosome (designated 2N-1-1), and a double tetrasomic contains an extra pair of two pairs of homologous chromosomes (2N+2+2). Polyploidy: It is a condition when the number is increased by multiple of haploid (23) chromosomes, other than the diploid number. If polyploidy, triploidy (23 x 3), affects all somatic cells, survival rate is poor. Under normal conditions polyploidy may be found in some liver cells and in the mucosa of the urinary bladder. This may occur in telophase of mitosis, when after the formation of two nuclear membranes enveloping diploid number of chromosomes, the cytoplasm fails to divide and the two nuclear membranes fuse enveloping double number of diploid chromosomes. Table: Some terms used to describe states of ploidy: Terms Ploidy Diploid Monoploid Haploid Polyploid Polyploidy and polyteny Definitions The number of full chromosome sets in a cell Two chromosome sets One chromosome set Strictly, half the normal number of chromosome sets found in meiotic cells i.e., gametes, but often used as synonymous with monoploid because most gametes have one set of chromosomes. More than two chromosome sets: triploid = 3; tetraploid = 4; hexaploid = 6,etc. over 10 copies of the genome are represented by numbers. Polyploidy refers to the possession of more than two sets of homologous chromosomes. Polyteny refers to the possession of many (identical) chromatids per chromosome, as seen in Drosophila. Even and odd numbers of chromosome sets, respectively. Anisoploid individuals are generally sterile because of unbalanced segregation at meiosis. Autopolyploidy is polyploidy arising from intrinsic genome duplication, whereas allopolyploidy results from genome duplication of a species hybrid. Possessing a chromosome number typical or atypical of the species, respectively.

Isoploid and anisoploid Autopolyploid and allopolyploidy Homoploid and heteroploid

Euploidy, aneuploidy Chromosome imbalance Hyperploidy, hypoploidy Pseudodiploidy Eusomy, aneusomy

Possessing full chromosome sets, having extra or missimg chromosomes. The loss or gain of chromosomes with consequent multiple gene dosage effects. Possessing more chromosomes than usual, possessing fewer chromosomes than normal Possessing the correct diploid chromosome number but an abnormal karyotype due to simultaneous monosomy and trisomy for different chromosomes. Possessing the correct number of copies of a given chromosome, possessing the incorrect number of copies of a given chromosome: nullisomy = no copies; monosomy = one copy; disomy = two copies; polysomy = more than two copies (trisomy = 3, tetrasomy = 4, etc.)

Under normal conditions polyploidy may be found in some liver cells and mucosal layer of the urinary bladder. This may occur in telophase of mitosis, when after the formation of two nuclear membranes enveloping diploid number of chromosomes, the cytoplasm fails to divide and the two nuclear membranes fuse enveloping double number of diploid chromosomes. Nondisjunction: Non disjunction may take place in mitosis or meiosis, and it may involve sex chromosomes as well as autosomes. In non disjunction, after splitting of the centromere one or more chromosomes fail to migrate properly due to abnormal function of achromatic spindle. As a result, both members of a particular pair go to one daughter cell which receives extra chromosome (trisomy) and the other daughter is deficient (monosomy) in that chromosome. Sometimes after splitting of the centromere one member of the newly formed chromosome separates as usual forming normal chromosome complement in one daughter cell, whereas the other member fails to reach the opposite pole of the spindle resulting in deficiency of that chromosome in the other daughter cell. This is known as anaphase lag. When non disjunction occurs in meiosis I, all four gametes are abnormal, having two with 24 (disomic gamete) and two with 22 chromosomes (nullisomic gamete). If it takes place in meiosis II, two gametes are normal (monosomy) and two abnormal (one with disomy and one with nullisomy). When fertilization takes place between normal and abnormal gametes, all cells derived from that zygote are aneuploid. 47, XYY syndrome: Although the 47, XYY chromosome constitution is not associated with an obviously abnormal phenotype, it became of great medical and scientific interest after the observation that the proportion of XYY males was much higher in the population of a maximum security prison, especially among the tallest inmates, than in the general population. About 3% of males in prisons and mental hospitals have a 47, XYY karyotype; among the group over 6 feet tall, the incidence is much higher (more than 20%). Among all live male births, the frequency of the 4, XYY karyotype is about 1 in 1000. The origin of the error that leads to the XYY karyotype must be paternal nondisjunction at meiosis II, producing YY sperm. The less common XXYY and XXXYY variants, which share the features of the XYY and Klinefelter syndromes, probably also originate in the father, in a sequence of nondisjunctional events at both meiosis I and meiosis II. XYY males identified in newborn screening programmes without ascertainment bias are tall and have an increased risk of behavioral problems, in comparison with chromosomally normal males. They have normal intelligence and are not dysmorphic. Fertility is normal, and there appears to be virtually no increased risk that a 47, XYY male will have a chromosomally abnormal child. Parents whose child is found, pernatally or postnatally, to be XYY are often extremely concerned about the behavioral implications. Indeed, some physicians believe that the information should be withheld when the identification is made postnatally. Inability to predict the outcome in individual cases makes identification of an XYY fetus one of the most severe genetic counseling problems faced in prenatal diagnosis programmes.