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Structure of the chromosome that results in Fragile X Syndrome 

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Fragile X syndrome or FXS is inherited in an X-linked dominant pattern, meaning that the disease is linked to the mother since the X chromosomes are inherited from the mother.

Fragile X Syndrome is a result of a mutation in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 gene is located on the long arm of the X chromosome.

FXS is caused by a mutation in the FMR1 gene, which is the gene responsible for making a protein called FMRP, which is needed in brain development. At the start of this gene, there is a segment of DNA that varies in length from one person to another. It is known as the CGG triplet repeat. In normal cases, this DNA segment is repeated from 5-40 times. In people with the Fragile X Syndrome, it is repeated over 200 times. When this happens, the gene is switched off and therefore will not produce the protein that it should make.

Symptoms of this disease include: intelligence issues (like learning disabilities, low IQ, memory loss, delayed early development milestones, and delayed development of gestures and body language), mental health issues (anxiety, depression, obsessive compulsive behaviors), and behavioral issues (such as Attention-deficit/hyperactivity disorder (ADHD), Flapping or biting their hands, seizures, and Self-injury behaviors).

This disease has no cure or treatment to be done, but there are treatments to help minimize the symptoms of this disease. appropriate education, therapy services, and medications such as sertraline (medication for treating anxiety) are ways of minimizing the symptoms.

As for gene therapy, AAV-mediated gene therapy could be a viable strategy for treating fragile X syndrome; in which AAV gene restores FMRP.

FXS is diagnosed by testing for the FMR1 gene in the DNA using a blood test.

Genetic counselling is an option, it can help figure if anyone in the patients families are carriers of this disease and the probabilities of this disease to be passed on to the next generation.

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Edward’s syndrome has an autosomal inheritance pattern, but it is rarely inherited because the host dies before they can reproduce, it usually happens because of a change in the sperm or egg before a baby is conceived.

Edward’s syndrome is caused by a maternal non-disjunction mutation, which creates a third chromosome of chromosome 18.

The disorder is sex-linked, but it rarely caused by this linkage.

It is located on chromosome 18.

The disorder happens by chance before the baby is conceived, the only factor that can affect this chance is the age of the parents.

Symptoms of the mutation includes: small and abnormally shaped head, chest, jaw, and mouth, arched spine and crossed legs.

The disorder usually causes very early death, only 13% of people with this disorder make it to their first birthday. This is why the disorder is almost never inherited.

There is no cure for the disorder, but treatments only focused to lessen the effects of the symptoms, like treating any heart conditions, breathing difficulties, eating difficulties, and infections. Treatments like palliative or comfort care can also help.

Although not a cure, the life of the patient could be prolonged with surgery.

The disorder is diagnosed through genetic testing. This can be done while the baby is in the womb using chorionic villus sampling or amniocentesis.

Genetic counseling is an option but isn’t as effective because the disorder is almost never inherited.

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The deletion of the short (P) arm of chromosome 5

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Cri  Du Chat is mostly not inherited, instead the partial deletion of the fifth chromosome usually occurs from a random event during the formation of the sperm and egg or in the early development of the embryo.

Du chat is an autosomal disorder therefore it cannot b found in the X and Y chromosome.but studies found females are 3 times more likely to get it then males due to male specific selection against abnormal cells

Cri du Chat occurs in the fifth chromosome

Cri du chat is inherited in a autosomal dominant manner.

Cri du chat is caused by a mutation and deletion of the short (P) arm of chromosome 5

Symptoms: A small head, low birth weight, folds of skin over the eyelids, abnormalities of the palate, such as an unusually narrow and high palate, and a  high-pitched, cat-like cry or weak cry.

Cri du chat can lead to constipation, high rate of infections, such as ear and upper respiratory tract infections, poor muscle tone, eye problems, such as a squint (strabismus), abnormal side-to-side curvature of the spine (scoliosis).

Treatments: Unfortunately, there is n cure for Cri Du chat syndrome but it can be less severe by providing physiotherapy to stimulate the child and help them to reach their full potential as well as improving their muscle tone and speech therapy.

Cri du chat syndrome is diagnosed based on a clinical examination, the signs and symptoms, and confirmed by the results of genetic testing. Cri du chat syndrome is sometimes diagnosed during pregnancy through prenatal testing.

Genetic counseling is definitely an option as it predicts the risk by checking if there is a deletion in the fifth chromosome and explain the risks that could happen.

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Turner syndrome is a chromosomal abnormality in which one of the X chromosomes in a female is completely missing or partially missing. People with Turner syndrome only have one X chromosome or an X chromosome and a partial X chromosome.

Turner syndrome is linked with the X chromosome and can only occur in females.

Turner syndrome is not inherited and happens randomly due to an error in division in either the mother’s egg or the father’s sperm which would result in each cell of the individual's body having only one copy of the X chromosome instead of the usual two sex chromosomes. There is also another form of Turner syndrome less common in which the X chromosome is partially missing or rearranged so only some of the cells in the body have a missing chromosome.

Because Turner syndrome cannot be carried, it is a dominant genetic disorder.

Turner syndrome is a highly variable disorder but some of the most common symptoms are: slowed growth, failure to undergo puberty, ovarian failure, infertility, skeletal malformations, teeth problems, droopy eyelids and hearing loss.

Heart defects are also very common in individuals with Turner syndrome. They may have some parts of the heart completely missing such as the aortic flaps which controls the passage of blood into the aorta. These heart defects may result in life-threatening symptoms such as pulmonary hypertension or tears in the heart vessels.

There is no cure for Turner syndrome but there is a wide range of treatments to aid women and girls with their specific symptoms to help them have normal productive lives. Genetic therapies are the most common mode of treating Turner syndrome symptoms. Growth hormone therapy and estrogen therapy will help to encourage normal growth.

A genetic test called karyotyping can diagnose Turner syndrome prenatally. Karyotyping works by taking a sample of the amniotic fluid around the baby and analyzing all 23 chromosomes. Turner syndrome can also be diagnosed if the doctor notices that the baby’s tissues are highly swollen during an ultrasound which is a very common occurrence in girls with Turner syndrome.

Genetic counselling may help affected individuals with finding out what genes they’re missing and what the complications of Turner syndrome may be for them. But genetic counselling will not able to tell prospective parents if their children may have a chance of developing Turners syndrome because it occurs spontaneously during cell division.

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Klinefelter Syndrome (47, XXY) is one of the Sex chromosome abnormalities. People with Klinefelter syndrome are phenotypically male.

This syndrome is the most common cause of hypogonadism and infertility in males and the most common sex chromosome aneuploidy in humans.

Klinefelter syndrome is not inherited. An extra sex chromosome is present in a male who was born with Klinefelter syndrome due to a random error.

The prevalence of this syndrome is increasing from 1/1000 males from earlier studies to 1/580 live-born boys recently.

The reasons for the increase in the prevalence and causes of the syndrome are unknown. It is just an error in paternal nondisjunction in meiosis I.

Sign and symptoms:

Men with Klinefelter syndrome experience a wide range of signs and symptoms. Some boys exhibit few or only mild symptoms. In some cases, the condition is not diagnosed until adulthood or it may never be detected. Other individuals may notice an impact on their growth or appearance.

The symptoms vary with age as well.
Patients develop secondary sex characters late and 50% develop gynecomastia.

Patients have a taller status and may have muscle weaknesses

Behavioral problems, Learning disorders, and deficits in language. The intelligence shows variability.

Problems with self-esteem are often cases with adolescents and adults. Substance abuse, depression, and anxiety have been reported in adolescents.

Diagnosis:

After the doctor physical examination of the patient’s body the two main tests that can be used to diagnose Klinefelter syndrome are:

Hormone testing. Blood or urine samples can reveal low testosterone levels.

Chromosome study. What is called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. This test reveals the 47, XXY condition.

Treatment for Klinefelter syndrome is based on signs and symptoms and may include:

Testosterone replacement therapy.  At the start of puberty, testosterone replacement therapy can help stimulate changes that normally occur at puberty. Testosterone replacement therapy can reduce the risk of fractures by improving bone density, and it may improve mood and behavior. However, this therapy will not improve infertility.

Breast tissue removal in patients having gynecomastia

Speech and physical therapy.

Educational evaluation and support.

Fertility treatment.

Psychological counseling.

Genetic counselors can help adults with Klinefelter syndrome figure out their options if they are trying to conceive or just trying to figure out what is going on with them.

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Down syndrome is usually not inherited however, when it is inherited, it's usually because of an abnormality in the 21st chromosome during fetus development. It is usually X linked however, it sometimes could be a result of a Y linked abnormality.

Down syndrome is located on the 21st chromosome indicated by trisomy 21.

Down syndrome is autosomal recessive disorder .

About 95 percent of the time, Down syndrome is caused by trisomy 21; the person has three copies of chromosome 21, instead of the usual two copies, in all cells.

Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in an extra partial or full chromosome 21. This extra genetic material is responsible for the characteristic features and developmental problems of Down syndrome.

It isn't a mutation as it is caused by an extra chromosome not a defaulted one.

There are no known behavioral or environmental factors that cause Down syndrome

Symptoms:

A flattened face, especially the bridge of the nose

Almond-shaped eyes that slant up

A short neck

Small ears

A tongue that tends to stick out of the mouth

Tiny white spots on the iris (colored part) of the eye

Small hands and feet

A single line across the palm of the hand (palmar crease)

Small pinky fingers that sometimes curve toward the thumb

Poor muscle tone or loose joints

Shorter in height as children and adults

possible hearing issues

possible sight problems

limited thinking and understanding

Don't pay enough attention and tend to not manage their feelings

Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy.

In order for doctors to diagnose down syndrome, they usually use CVS or Amniocentesis as diagnostic tests. Both are done by analyzing fetal cells, one at 10-13 weeks and the other at 15 weeks.

It is possible to know if your offspring will be at a higher risk of down syndrome through genetic counseling before pregnancy however, since down syndrome is usually not caused through inheritance, it might not be accurate . During pregnancy, down syndrome can be identified through genetic counseling. Genetic counseling also educates parents on how to treat their children that are diagnosed with down syndrome properly.

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Abdulrahman Khalil - Phenylketonuria (PKU)

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Abdulrahman Khalil - Phenylketonuria (PKU)

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- The pattern of inheritance for Phenylketonuria is autosomal recessive

- Found on chromosome 12

- It is caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH) (enzyme needed to break down phenylalanine)

- It causes an amino acid called phenylalanine to build up in the body when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener

- For diagnosis; Serum analysis of phenylalanine is the initial step in screening patients for PKU. Levels above > 120 mcmol/L are suspicious and are probable cases for PKU

- Symptoms include:

Hyperactivity

Intellectual disability

Delayed development

- Possible effects for untreated PKU include:

Irreversible brain damage and marked intellectual disability beginning within the first few months of life

Neurological problems such as seizures and tremors

Behavioral, emotional and social problems in older children and adults

Major health and developmental problems

- There is no cure for PKU but treatments include:

Phenylalanine restriction in the patient’s diet

Tyrosine increase in the patient’s diet

A drug called Sapropterin (Kuvan) can increase Phenylalanine while following a PKU diet

- Genetic counseling can help the parents better understand how PKU is passed through the family tree. As well as help determine the risk of having a child with PKU and assist with family planning.

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Pataus syndrome cannot be inherited and is in fact a result from random events during the formation of eggs and sperm in healthy parents.

Patau's syndrome is found on chromosome 13 so it is considered an autosomal disorder.

Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy in newborns. It is characterized by having 3 copies of chromosome 13 in cells of the body, instead of the usual 2 copies. The extra chromosome typically results from nondisjunction in maternal meiosis when the chromosomes fail to seperate.

Symptoms include: congenital heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes, extra fingers and/or toes, cleft lip or palate, and decreased muscle tone. Many infants with trisomy 13 fail to grow and gain weight at the expected rate, they have severe feeding difficulties; and may stop breathing for short periods of time.

Treatment: Unfortunately, there is no treatment or cure for the extra chromosome that causes trisomy 13. However, individuals with the disorder should focus on managing the symptoms. In some cases, recommended treatment may include surgical correction of certain abnormalities associated with the disorder.

It is reported that between 86% and 91% of live-born patients with Patau syndrome do not survive beyond 1 year of life.

Diagnosis of Patau's syndrome is based on the symptoms, a clinical exam, and is confirmed by looking at an the chromosomes in an individuals karyotype. If at any chance, there are three chromosomes at the 13th chromosome, then the patient is diagnosed with Patau's syndrome.

Prenatal testing or screening is also available to determine if a current pregnancy is at risk for, or is affected by trisomy 13 or other chromosome disorders.

Genetic counceling can offer and interpret genetic tests that may help to estimate risk of disease. Also, people with a family history of trisomy 13 who are interested in learning about genetic screening or testing for themselves or family members are encouraged to speak with a genetic counselors.

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Effect of the mutation in Chromosome 15.

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The inheritance pattern for Tay-Sachs disease is Autosomal recessive.

Tay-Sachs disease occurs when there is a mutation to the HEXA gene. Each baby has two copies of the HEXA gene, one from their biological father and one from their biological mother. Tay-Sachs happens when both parents have a variant HEXA gene and pass it on.

Tay-Sachs disease is caused by a mutation in the gene (HEXA) located on chromosome 15. The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase.

When there is an absence of the enzyme that helps break down fatty substances. Substances called: ganglioside, build up and raise toxic levels in the child's brain and affect the function of the nerve cells, eventually leading to death.

Symptoms include loss of physical abilities such as turning over, crawling and sitting up, exaggerated reactions when hearing loud noises, frequent seizures, vision and hearing loss, red spots in the eyes due to the intense pressure in the blood vessels, muscle weakness all over the body and having extreme difficulty with overall movement.

There is no cure for Tay-Sachs disease, but some treatments can help in managing symptoms such as medication, to reduce symptoms, including anti-seizure medications, respiratory care to help with better oxygen intake and physical therapy to allow for improved movement.

A diagnostic blood test is conducted to check for Tay-Sachs disease, the blood test checks the levels of hexosaminidase in the blood.

If The enzyme levels are low or non-existent, then the child is diagnosed with Tay-Sachs disease.

Genetic counselling is a great option for couples who want to gain more information on the chance of the disease occurring in their child. Genetic tests will allow the family to make carefully planned out decisions for family planning.

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Batoul: Duchenne & Becker Muscular Dystrophy 

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Batoul: Duchenne & Becker Muscular Dystrophy 

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Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive pattern. X chromosomes are inherited from the mother, so the disease is linked to the mother.

DMD is caused by mutations of the DMD gene located on the short arm of the X chromosome (Xp21.2). BMD affects the X chromosome.

Duchenne and Becker muscular dystrophy follows x-linked recessive inheritance.

Causes: mutations in the DMD gene cause the Duchenne and Becker forms of muscular dystrophy. The DMD gene provides instructions for making a protein called dystrophin. Muscle cells without enough of this protein become damaged as muscles repeatedly contract and relax with use.

Symptoms include: Muscle weakness that begins in the hips, pelvis, and legs; difficulty standing; trouble learning to sit independently and walk; walking on the toes or balls of the feet; clumsiness; trouble climbing stairs; difficulty rising from a lying or sitting position; larger-than-normal calves that are sometimes painful; trouble breathing; learning disabilities or behavioral problems; curvature of the spine (scoliosis). This can cause one hip to rise higher than the other.; breathing problems that may eventually require the use of a ventilator.

DMD and BMD are associated with a heart condition called cardiomyopathy. This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently. This can eventually lead to death.

Treatments for DMD include: Corticosteroids, Glucocorticoids, and Deflazacort. However, there is no known cure for BMD.

Gene therapy represents a promising approach for treating both Duchenne and Becker muscular dystrophy (DMD/BMD). The most direct approach to treating this disease would be to restore dystrophin production in muscle (however this does not prove very effective in BMD).

DNA testing of the dystrophin gene is done to diagnose the diseases.

For families living with Duchenne and Becker, genetic counseling can offer several benefits, including: Education about inheritance, chance of recurrence and family planning options., coordination of genetic testing for affected individuals and possible carriers, and interpretation of genetic test results.

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Autosomal Recessive Disease

Found on chromosome 7

It is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein

The CFTR controls the flow of salt and fluids in and out of your cells. If the CFTR gene doesn't work the way it should, a sticky mucus builds up in your body.

There are no environmental triggers that start cystic fibrosis since it is a biological mutation. But the environment could increase/decrease the severity of it.

Symptoms include; recurring chest infections, bronchiectasis, and difficulty putting on weight/growing

Cystic fibrosis causes the body to release a thick mucus that clogs certain organs, such as the lungs, pancreas, and intestines.

Unfortunately there is no cure for cystic fibrosis, but treatments like antibiotics, anti-inflammatory drugs, and mucus thinning drugs can lessen the pain and discomfort for the patient

For gene therapy involves the transfer of correct copies of CFTR DNA to the epithelial cells in the airways. However gene therapy for cystic fibrosis is still in its early development. It also doesn’t reverse the effects cystic fibrosis brought onto any organs.

Cystic fibrosis is diagnosed by the sweat test is the standard test for diagnosing it.

Genetic counseling can help to see if anyone in the patient’s family is a carrier. Or if the patient wants a family, what are the probabilities of cystic fibrosis being passed down.