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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

Please what is ovulation
Adusei Reply
What is cell division?
Adusei
What is copulation?
Adusei
what is a metaborism
Beatrice Reply
this is a specialized part of the cell eg Nucleus
David Reply
what are the organelles?
Faith Reply
what is reproduction
mana Reply
reproduction is the process by which living organisms give rise to young ones of their own kind
Miriam
What is evolution
Wengelawit
the production of new forms of life over time as documented in the fossil record.
mana
hmm
Marvin
give two parasites where secondary host is water snail?
Kevin Reply
what is treats
Raih Reply
what are the organelles in cell that involves in protein sythenis
Rita Reply
what is a melanin?
Judith Reply
what is telophase
Elphas
melanin in that black color we posse in our skins
Marvin
Why do parasites take on a parasitic life?
Asadullah Reply
what is cell
Ousman Reply
A cell is the basic structure unit of an organ
Yaa
what is respiration
Igwe
what is organisms?
Bashir
Organisms are living things that can function on their own
EZEA
A cell is a functional basic unit of an organisms.
Evelyn
Organisms is a entity which consists of one or more cells and are able to undergo all life processes
Evelyn
A respiration is the physical and chemical break down of complex food substance into absorbable or simple form.
Evelyn
What will to a cell if the nucleus is removed..?
Goodrick Reply
When a cell nucleus removed then the cell will not be able to function properly, it will not be able to grow .All the metabolic functioning of the cell will stop .Without nucleus the cell will lose it's control. It can not carry out cellular reproduction .
Evelyn
defin peroxesome
walid
write a short note on how the kidney carry out osmoregulation in man
Rhoda Reply
Kidney play a very large role in human osoregulation by regulating the amount of water reabsorbed from glomerular filtrate in kidney as tubules, which is controlled by hormones such as antrdiuvetic hormone (ADH) , aldosterone and angiotensin.
Evelyn
kidney is capable of osmoregulation in mammal ,
Judith
simple definition for respiratory system
Gift Reply
Respiratory system is a network of organs and tissues that helps you to breathe or help in getting the rids of oxygen and discharge of carbon dioxide in the body.
Ruhiyatu
What are uses of respiratory system
Joster
how it functions
Ousman
what is inresparetion
Fikkabex
Why do parasites take on a parasitic life?
Asadullah
A respiratory system is a biological system consisting of specific organs and structures used for gas exchange in animals and plant
Evelyn
diseases of respiration
walid
when air enters to the body called inresparetion
walid
explain why plants responds to stimuli slowly than animals
Bekoe
how is a aerenchyma tissue adapted to its function
fatuma Reply
Have large air spaces that store air for gaseous exchange... Large air spaces also facilitate bouyancy.
Goodrick

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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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