genetic disorders Archives

Dec302023 by AdminNo Comments

Autism Spectrum Disorder and Genetic Foundations

Genetic foundations play a critical role in the development of autism. The effect of genetic predisposition becomes more evident in individuals with a family history of autism. In this article, we will discuss the studies carried out to understand the genetic basis of autism and the important findings that emerge. We will examine how genetic factors as well as environmental factors interact to explain different aspects of autism. What is Autism Spectrum Disorder (ASD)? Autism spectrum disorder (ASD) occurs in individuals' social interaction, communication and behavioral skills. It is a complex neurodevelopmental disorder characterized by a range of difficulties. This condition is usually noticed in childhood and shows many different symptoms. Research on the causes of autism shows t...

Dec302023 by AdminNo Comments

Cri-du-chat Syndrome: Deletion in Chromosome 5 and Its Features

Special Psychology

Cri-du-chat syndrome is a genetic disorder that occurs on chromosome 5. In this article, the basic features of the syndrome and the effects of the deletion in chromosome 5 will be discussed. What is Cri-du-chat Syndrome? Cri-du-chat syndrome occurs especially in infancy. It is a genetic condition that involves a number of physical and mental characteristics. This syndrome occurs as a result of the deficiency or deletion of a gene located on chromosome 5. The Effects of Deletion in Chromosome 5: In Cri-du-chat syndrome, the loss of a specific region on chromosome 5 affects the development of the individual. This syndrome is typically recognized by a characteristic feature in which the baby's cry resembles a sound like a cat's meow. In addition, individuals may experience a numb...

Dec292023 by AdminNo Comments

Effects of Changes in Chromosomes on Human Health

Diseases

The human body stores genetic information through chromosomes, one of the basic structural units that carry genetic information. However, changes in these chromosomes can affect an individual's health and cause various genetic diseases. In this article, we will discuss in detail the effects of chromosome abnormalities on human health. From numerical changes such as trisomy and monosomy to structural changes such as deletions and duplications. Changes in Chromosomes and Genetic Structure Human cells contain chromosomes that carry genetic information. Any change in chromosomes affects the genetic structure and causes health problems. Trisomy and Monosomy: Numerical Changes Trisomy refers to the presence of more than normal chromosomes in a chromosome pair. Monosomy represents a ...

Dec292023 by AdminNo Comments

Klinefelter Syndrome: Anomalies in Sex Chromosomes

Special Psychology

Klinefelter syndrome is a genetic disorder and is usually seen in male individuals. This syndrome is characterized by one or both of the individual's sex chromosomes having a different structure than normal. Deviation of genetic material from normal results in a variety of effects, from physical characteristics to language and learning abilities. In this article, we will examine this syndrome in detail. What is Klinefelter Syndrome? Klinefelter syndrome is a genetic condition that usually occurs in men. In this syndrome, one or both of the individual's sex chromosomes have a different structure than normal. XXY Chromosome Structure: Genetic Anomaly Individuals with this syndrome usually have an XXY chromosome structure instead of an XY sex chromosome. This condition is associa...

Dec292023 by AdminNo Comments

Turner Syndrome: Single X Chromosome Anomaly and Its Effects

Special Psychology

Turner syndrome is a genetic disorder that usually occurs in girls. This syndrome is characterized by a fundamental abnormality in the individual's genetic makeup: the presence of only one X chromosome. It is a condition that causes significant changes in physical characteristics. It also manifests itself with various effects on growth, sexual development and fertility. In this article, we will examine the basic features and effects of Turner syndrome in detail. What is Turner Syndrome? This syndrome is a genetic disorder usually seen in girls. In this case, the individual is missing one of the sex chromosomes. So there is usually one X chromosome. Single X Chromosome: At the Basis of Genetic Anomalies This syndrome is usually associated with the individual having only one X c...

Dec282023 by AdminNo Comments

Chromosomal Diseases Caused by Genetic Anomalies

Diseases

Genetic anomalies cover a range of conditions that refer to abnormalities in the genetic material of individuals. These anomalies usually occur in chromosomes and cause various genetic diseases. Chromosomal diseases occur as a result of changes in the structure or number of genetic material. They can affect individuals' quality of life. In this article, we will examine in detail the mechanisms, symptoms and effects of genetic anomalies, especially those that lead to chromosomal diseases. What are Genetic Anomalies and Chromosomal Diseases? Genetic anomalies refer to abnormalities that occur in the genetic material of individuals. These anomalies usually occur in chromosomes and lead to various chromosomal diseases. Trisomy and Monosomy: Changes in the Number of Chromosomes Tr...

Dec282023 by AdminNo Comments

What is Down Syndrome?

Special Psychology

Down syndrome is a genetic disorder characterized by the presence of three chromosomes in the 21st chromosome pair of individuals instead of the normal two. Down Syndrome Frequency and Genetic Origin This syndrome is seen in one in every 700-800 births worldwide. It is usually caused by a genetic error in the mother's egg or the father's sperm. Physical Symptoms and Features Individuals with this syndrome often have distinctive features on the face. These features include features such as a curvy structure, low muscle tone, and a small and round face shape. Mental and Developmental Symptoms Intellectual and developmental delays are common in individuals with Down syndrome. Learning disabilities, delays in language development, and difficulties with motor skills are among...

Dec282023 by Admin1 Comment

What are Chromosome Pathologies?

Special Psychology

Chromosomal pathologies have a great impact on the health of individuals. Today, research in the field of genetics reveals this. In this article, we will discuss the basic information and classification of chromosome pathologies. What is Chromosome? Chromosomes are structural units inside our cells that carry genetic information. Humans have 46 chromosome pairs. These chromosomes are the organized form of DNA. What are Chromosome Pathologies? Chromosomal pathologies are abnormalities in the structure or number of chromosomes. These abnormalities are usually present from birth. They prevent the genetic material from working properly. Down Syndrome (Trisomy 21) The one of the most commonly known chromosomal pathologies is Down syndrome. It occurs when the 21st chromosome p...