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During cell division (both mitosis and meiosis), one of the chromosome 21 doesn't separate as it's supposed to. This may cause  Down syndrome.

People with Down syndrome / Trisomy 21, makes some of their cells have an extra chromosome.

Recovered from: https://www.stanfordchildrens.org/en/topic/default?id=down-syndrome-trisomy-21-in-children-90-P02356

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- It is also known as Down Syndrome, due to it being present in 95% of Trisomy 21 cases
- It affects 1 in 700 babies.

Karyogram of a person affected by Trisomy 21:

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Flattened face

Small head

Short neck

Protruding tongue

Upward slanting eye lids (palpebral fissures)

Unusually shaped or small ears

Poor muscle tone

Broad, short hands with a single crease in the palm

Relatively short fingers and small hands and feet

Excessive flexibility

Tiny white spots on the colored part (iris) of the eye called Brushfield's spots

Short height

Recovered from:
https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977

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Down syndrome, or Trisosmy 21, is not curable or preventible but there are treatments available for some of the symptons a person with this condition may suffer from such as heart problems, muscular weakness and spinal curvatures.

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Trisomy 21, also known as Down syndrome, is the most common chromosomal anomaly in humans and can cause intellectual disabilities and health issues.

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Also known as “5p- syndrome and cat cry syndrome”

It’s rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm of chromosome 5; The cause of this rare chromosomal deletion is unknown.

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changes in a gene called the fragile X mental retardatio, the FMR1 gene usually makes a protein called fragile X mental retardation protein (FMRP), FMRP is needed for normal brain development. People who have FXS do not make this protein.

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Is caused by chromosomal abnormality in which some or all of the cells of the body contain extra genetic material from chromosome 13.

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The most common physical signs for Patau Syndrome are the decreasing of muscle tone, small hands, small ears, small head and mouth, as well as wide and short hands with short fingers. Physical development for children affected by Patau Syndrome occurs more slowly than children without Patau syndrome.

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Aproximately 90% of infants with this syndrome die within the first year of life

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- a high-pitched cat-like cry
- mental retardation
-delayed development
-distinctive facial features
-small head size (microcephaly)
-widely-spaced eyes (hypertelorism)
-low birth weight
-weak muscle tone (hypotonia) in infancy

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Fragile X syndrome physical attributes are a prominent, broad forehead, large ears, long face, stabismus(squint or crossed eyes), a prominent jaw, hollow chest and/or scoliosis.

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The cause of Patau syndrome is a third copy of the chromosome 13 in each body cell--> this disrputs the normal course of development and causing the main characteristics of trisonomy 13.

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The cause of Patau syndrome is a third copy of the chromosome 13 in each body cell--> this disrputs the normal course of development and causing the main characteristics of trisonomy 13.

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From the Website: https://medlineplus.gov/genetics/condition/trisomy-13/

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-Developmental delays
-Learning disabilities
-Social and behavior problems, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking, and being very active

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Its most characteristic feature is the high pitched cat-like cry. It also causes a small head size and a characteristic facial appearance with an extra fold of skin in the corners of the eyes.

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People affected by Patau syndrome many times have heart defects, small or poorly developed eyes, spinal cord or brain abnormalities, cleft lip or palate, extra toes or fingers, and decreased muscle tone.

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1 case per 8,000-12,000 live births

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1 in 50,000 livebirths
1.5 in a 1000 among individual with mental retardation

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Decreasing of muscle tone, small hands, small ears, small head and mouth, as well as wide and short hands with short fingers

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We need to mention that there’s no cure for cri du chat syndrome; Some treatments for people with this syndrome are:

Physiotherapy to improve poor muscle tone speech therapy.

Communication alternatives, such as sign language, since speech is usually delayed, often severely.

Occupational therapy to teach coping strategies and new skills.

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It can appear on ultrasounds of babies around 10-14 weeks.

Its diagnosis can be also be done by collecting a blood test to check if the cells have an extra chromosome.

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The characteristic high-pitched, shrill cry associated with cri du chat syndrome is present during the first few weeks of life. The cry, which resembles the mewing of a cat, becomes less pronounced as affected infants grow older.

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Some 60% of the patients need regular medical care and nearly all are mentally retarded. However a wide spectrum of developmental abilities is displayed and a number of patients can be reared at home for several years. Life expectancy depends on the number and severity of birth defects.

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Approximately 75% of concepti with trisomy 21 die in embryonic or fetal life. Approximately 25-30% of patients with Down syndrome die during the first year of life. Adults with Down syndrome may live about 60 years

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The severity of the symptoms is determined by the size and location of the deletion on chromosome 5.

This deletion occurs very early in the development of an embryo and cri du chat syndrome is usually not inherited in families.

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Health Problems for Children with Cri du chat Syndrome

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Health Problems for Children with Cri du chat Syndrome

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Children with cri du chat syndrome mostly experience health problems like:

Difficulties with suckling and swallowing

Gastric reflux

Constipation

High rate of infections, such as ear and upper respiratory tract infections

Poor muscle tone

eye problems, such as a squint (strabismus).

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The fragile X syndrome affects about 1 in 4,000 males and 1 in 6,000 to 8,000 females in the USA; that is, it affects about twice as many males as it does females.
about four times as many females appear to be carriers of the altered gene as do males (1:250 females and 1:1000 males).

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Cri du chat syndrome is a rare genetic disorder caused by a missing section on a particular chromosome known as Chromosome 5. Sometimes, material from another chromosome is missing as well. Around one in every 50,000 or so babies is diagnosed with this disorder. This estimate is coming down. With more advanced and frequent genetic testing, and many more milder cases being diagnosed, it may be as low as one in 25,000.

Around a third as many girls as boys are affected. Other names for this condition include cat-cry syndrome, 5P minus syndrome and Le Jeune's syndrome.

Chromosomes are responsible for our inherited characteristics such as eye colour. In a child with cri du chat syndrome, some of the genes located on Chromosome 5 are missing, usually for reasons unknown. The impact of this can vary from one child to the next, but most will have delayed development and some degree of intellectual disability.

There is no cure, but treatments (including speech therapy, physiotherapy and occupational therapy) can help the child to reach their full potential.

Symptoms of cri du chat syndrome

Cri du chat syndrome is often diagnosed at birth. The symptoms in a newborn baby can include:

a high-pitched, cat-like cry or weak cry

low birth weight

a small head

a rounded face

a broad, flattened bridge of the nose

eyes spaced wide apart

folds of skin over the eyelids

abnormalities of the palate, such as an unusually narrow and high palate

a receding, small chin

malformations of the ears.

Health problems for children with cri du chat syndrome

Children with cri du chat syndrome commonly experience health problems including:

difficulties with suckling and swallowing

gastric reflux

constipation

high rate of infections, such as ear and upper respiratory tract infections

poor muscle tone

eye problems, such as a squint (strabismus).

Other problems, which occur less frequently, include:

hearing loss

deformities of the skeleton, such as curvature of the spine (scoliosis)

hernias

heart and kidney problems.

Causes of cri du chat syndrome

No one knows what causes the deletion of certain genes on chromosome 5. In most cases, the abnormality happens spontaneously, with no family history. The risk of a couple with normal chromosomes having another child with cri du chat is around one per cent. In some cases, one of the parents has abnormalities of Chromosome 5.

Genetic counselling for these couples is important, as subsequent children may also have cri du chat syndrome. Medical techniques such as amniocentesis, where a sample of amniotic fluid is examined, can determine whether or not an unborn baby has cri du chat syndrome. Amniocentesis is usually performed in the first trimester of pregnancy.

Severity of cri du chat syndrome varies

The severity of the condition can vary. Some children are only mildly affected, and reach their developmental milestones, such as walking and talking, at the usual ages. However, they may still need speech therapy. Other children are profoundly intellectually disabled, unable to walk or talk, and suffer from related health problems and a reduced life span.
The majority of children born with cri du chat syndrome fall between these two extremes. They have moderate intellectual disability, with varying degrees of speech delay and some health problems, but most master walking some time before the age of six. It is impossible to predict whether or not a newborn baby with cri du chat syndrome will be mildly, moderately or severely affected. This will only become clear as the child gets older.

Treatment for cri du chat syndrome

There is no cure for cri du chat syndrome. Treatment aims to stimulate the child and help them to reach their full potential and can include:

physiotherapy to improve poor muscle tone

speech therapy

communication alternatives, such as sign language, since speech is usually delayed, often severely

occupational therapy to teach coping strategies and new skills.

Support for parents of children with cri du chat syndrome

Support services for parents of children with disabilities include:

counselling

information

referral

advocacy

support groups.

The Genetic Support Network of Victoria (GSNV) is connected with a wide range of support groups throughout Victoria and Australia and can connect you with other individuals and families affected by cri du chat syndrome.

Genetic counselling and cri du chat syndrome

If your child has been diagnosed with cri du chat syndrome, or if it runs in your family, it can be helpful to speak to a genetic counsellor.

Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand the condition and what causes it, how it is inherited, and what a diagnosis means for your child's health and for your family. Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs.

If cri du chat syndrome runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members. You may choose to visit a genetic counsellor if you are planning a family - to find out your risk of passing that condition on to your child, or to arrange for prenatal tests.

Where to get help

Content Partner

This page has been produced in consultation with and approved by: Cri du Chat Support Group of Australia

Content on this website is provided for information purposes only. Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional. The information and materials contained on this website are not intended to constitute a comprehensive guide concerning all aspects of the therapy, product or treatment described on the website. All users are urged to always seek advice from a registered health care professional for diagnosis and answers to their medical questions and to ascertain whether the particular therapy, service, product or treatment described on the website is suitable in their circumstances. The State of Victoria and the Department of Health & Human Services shall not bear any liability for reliance by any user on the materials contained on this website.

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Cri du chat syndrome is a rare genetic disorder caused by a missing section on a particular chromosome known as Chromosome 5. Sometimes, material from another chromosome is missing as well. Around one in every 50,000 or so babies is diagnosed with this disorder. This estimate is coming down.

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The causes of Edward's syndrome is that the individual has 3 copies of the chromosome 18 instead of two. This happens because of a change in the sperm or egg
before the baby is conceived.

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--Microcephaly                                        --Micognathia (abnormally small jaw and mouth)                                    --Long overlapping fingers/ undeveloped fingernails                       --Scrunched fists                                   --Low-set ears                                        --Arched spine and abnormally shaped chest
--Crossed legs                                    -- --Umbilical hernia

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Life expectancy for people with fragile X syndrome is generally normal. Many affected people participate in an active lifestyle and have good health. Some people are more prone to a number of medical problems such as ear infections and seizures.

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little people

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-affects how long a baby may survive
-Sadly many babies die after being born
-Just About 13% of babies pass their first year

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Children born with Edwards syndrome may have some or all of these characteristics:

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Children born with Edwards syndrome may have some or all of these characteristics:

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kidney malformations, structural heart defects at birth, intestines protruding outside the body, esophageal atresia, intellectual disability.

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1 per 6000.
Is the third place most found autosomal trisomy

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Edwards syndrome is untreated and is usually fatal before birth or during the first year of life.

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this syndrome is diagnosed since  pregnancy.  They see if the mom has had any history of genetic abnormalities, or if she had a previous miscarriages.

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It depends if the baby does not have any immediate life-threatening problems. For babies that have survived their first 30 days of life, 36% were alive at one year. About 10% of children born with trisomy 18 survive until 10 years of age.