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Several errors in sex chromosome number have been characterized. Individuals with three X chromosomes, called triplo-X, are phenotypically female but express developmental delays and reduced fertility. The XXY genotype, corresponding to one type of Klinefelter syndrome, corresponds to phenotypically male individuals with small testes, enlarged breasts, and reduced body hair. More complex types of Klinefelter syndrome exist in which the individual has as many as five X chromosomes. In all types, every X chromosome except one undergoes inactivation to compensate for the excess genetic dosage. This can be seen as several Barr bodies in each cell nucleus. Turner syndrome, characterized as an X0 genotype (i.e., only a single sex chromosome), corresponds to a phenotypically female individual with short stature, webbed skin in the neck region, hearing and cardiac impairments, and sterility.

Duplications and deletions

In addition to the loss or gain of an entire chromosome, a chromosomal segment may be duplicated or lost. Duplications and deletions often produce offspring that survive but exhibit physical and mental abnormalities. Duplicated chromosomal segments may fuse to existing chromosomes or may be free in the nucleus. Cri-du-chat (from the French for “cry of the cat”) is a syndrome associated with nervous system abnormalities and identifiable physical features that result from a deletion of most of 5p (the small arm of chromosome 5) ( [link] ). Infants with this genotype emit a characteristic high-pitched cry on which the disorder’s name is based.

 Photos show a boy with cri-du-chat syndrome. In parts a, b, c, and d of the image, he is two, four, nine, and 12 years of age, respectively.
This individual with cri-du-chat syndrome is shown at two, four, nine, and 12 years of age. (credit: Paola Cerruti Mainardi)

Chromosomal structural rearrangements

Cytologists have characterized numerous structural rearrangements in chromosomes, but chromosome inversions and translocations are the most common. Both are identified during meiosis by the adaptive pairing of rearranged chromosomes with their former homologs to maintain appropriate gene alignment. If the genes carried on two homologs are not oriented correctly, a recombination event could result in the loss of genes from one chromosome and the gain of genes on the other. This would produce aneuploid gametes.

Chromosome inversions

A chromosome inversion    is the detachment, 180° rotation, and reinsertion of part of a chromosome. Inversions may occur in nature as a result of mechanical shear, or from the action of transposable elements (special DNA sequences capable of facilitating the rearrangement of chromosome segments with the help of enzymes that cut and paste DNA sequences). Unless they disrupt a gene sequence, inversions only change the orientation of genes and are likely to have more mild effects than aneuploid errors. However, altered gene orientation can result in functional changes because regulators of gene expression could be moved out of position with respect to their targets, causing aberrant levels of gene products.

An inversion can be pericentric    and include the centromere, or paracentric    and occur outside of the centromere ( [link] ). A pericentric inversion that is asymmetric about the centromere can change the relative lengths of the chromosome arms, making these inversions easily identifiable.

Questions & Answers

complete the table below based on the levels of biological organization
Lovely Reply
Give me Examples of living thing which have 2 or more flagella?
Mahesh Reply
insect and plants
qax
reproduction it's full meaning
Gift Reply
full meaning of ATP
Gifty
A life process in which living things increase their population through sexual or non sexual intercouse
Danisha
please explaination
Daniel
Gifty ATP means Adenosine tri phosphate
Mahesh
reproduction is the process where living organisms producess their offspring
jerry Reply
what is reproduction
Nmesoma Reply
why some kinds of students are failed
Ahmadi Reply
lack of concentration
Faith
lack of guidance and counseling
ali
What is the meaning of optic
Kisaky Reply
Giving a specific section of the alimentary canal,describe 3 ways in which physical digestion occurs.
Kisaky
mouth when chewing
ephraim
what is population
Ivy Reply
total number of people living in an area
FILDA
a number of people lives in one catigorize area or named area
Oburak
what is a cell
Chiko Reply
basic and functional unit of life
Edwin
cell is tissues that makes up functional life in human or un animal.
Oburak
is the smallest basic unit of life.
Kisaky
Is the smallest baic unit. o
Kisaky
why cell is very important to human body
Ahmadi
what is diffusion
Henry
diffusion is a process of mix of particles from higher concentration to the lower one,to make the body functional normal
Adam
what is soil
FILDA Reply
Is the finely divided material covering the earth crust.
Kisaky
is the upper moist of layer of the earth surface
Ahmadi
what is reducing sugar
Erica Reply
in genetics which disease is also termed as the queen disease
Phinihas Reply
what are the types of cell
Teye Reply
prokaryote ,eukaryote, akaryotes
bonney
what is akaryotes ?
Chriscia
multicellular and unicellular
Edwin
akaryotes are organisms that function as eukaryotes and prokaryotes
Edwin
akaryotes are cell with no nucleus
Edwin
biology is the study of living organisms
bonney Reply
what are the important of cells in the body
Nharnhar Reply

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Source:  OpenStax, Biology. OpenStax CNX. Feb 29, 2016 Download for free at http://cnx.org/content/col11448/1.10
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