CHROMOSOMES DISORDER CAUSED BY NONDISJUNCTION Table of contents 01 KARYOTYPE 02 PHYSICAL/MENTAL ABNORMALITIES 04 PROBABLITY OF EXCESTENCE 04 03 LIFESPAN 05 TREATMENT/THERAPY 01. KARYOTYPE Introduction A karyotype is an individual’s complete set of chromosomes. The term also refers to a laboratory-produced image of a person’s chromosomes isolated from an individual cell and arranged in numerical order. A karyotype may be used to look for abnormalities in chromosome number or structure. (DOWN SYNDROME) TRISOMY 21 (DOWN SYNDROME) TRISOMY 21 WHAT IS TRISOMY 21? Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. 02. PHYSICAL/MENTAL ABNORMALITIES Physical Abnormalities Of People A Person With Down Syndrome Distinct Facial Features: People with Down syndrome often have distinct facial features, which may include a flat facial profile, upward slanting eyes with epicanthic folds, a small nose, a protruding tongue, and low-set ears. 1.Low Muscle Tone (Hypotonia): Hypotonia is a condition characterized by reduced muscle tone, which can affect motor skills and coordination. Babies with Down syndrome may exhibit poor muscle tone, making it challenging for them to hold up their heads or sit without support. Joint Instability: Loose ligaments and poor muscle tone can contribute to joint instability and increased flexibility. This may manifest as hyperextensible joints, particularly in the fingers and toes. Developmental Delays: •Individuals with Down syndrome often experience delays in physical and intellectual development, such as speech and motor skills. Mental Abnormalities Of People A Person With Down Syndrome Behavioral Issues: • Some individuals with Down syndrome may exhibit behavioral challenges such as impulsivity, stubbornness, or difficulty regulating emotions. 1.Social and Emotional Development: 1. Social skills and emotional development may be delayed or affected in individuals with Down syndrome. They may have difficulty understanding social cues and navigating social interactions. Learning Disabilities: Individuals with Down syndrome often have specific learning difficulties, particularly in areas such as reading, writing, and mathematics. Intellectual Disability: •Most individuals with Down syndrome have some degree of intellectual disability, ranging from mild to moderate. This can affect cognitive abilities, learning, and problem-solving skills. 03. LifeSpan of a person with down syndrome People with Down syndrome can expect to live to 60 In the 1940s, a child with Down syndrome had a life expectancy of 12 years. These days, their life expectancy is 60 years and a baby born with Down syndrome could live into their 80s — in line with the general population. 04. Probability of Existence 1 to 100 The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births worldwide. Each year, approximately 3,000 to 5,000 children are born with this chromosome disorder. 05. Treatment There is no single, standard treatment for Down syndrome. Treatments are based on each person's physical and intellectual needs, strengths, and limitations. https://medlineplus.gov/downsyndrome.html#:~:text=There% 20is%20no%20single%2C%20standard,develop%20to%20their%20full%20potential. “We have the same wants and dreams as everyone else. We can do anything anyone else can do. We are more alike than we are different. ”