What kind of mutation is down syndrome

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National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Down syndrome.

You can help advance rare disease research! This site is in-development and may not reflect the final version. Preview the new GARD site. Not a rare disease. Other Names:. Trisomy 21; Down's syndrome. Summary Summary. Symptoms Symptoms. People with Down syndrome may develop the following medical problems: [2] Congenital hypothyroidism Hearing loss Congenital heart defects Seizures Vision disorders Decreased muscle tone hypotonia Children with Down syndrome are also more likely to develop chronic respiratory infections, middle ear infections, and recurrent tonsillitis.

They are often slow to turn over, sit, and stand. Developmental delay may be related to the child's weak muscle tone. Development of speech and language may also take longer than expected. Children with Down syndrome may take longer than other children to reach their developmental milestones, but many of these milestones will eventually be met. Showing of 63 View All.

Short and broad skull. Short fingers or toes. Depressed bridge of nose. Flat bridge of nose. Flat nasal bridge. Flat, nasal bridge. Flattened nasal bridge. Low nasal bridge. Low nasal root. Eye folds. Prominent eye folds. Flat facial shape. Mental deficiency. Mental retardation. Mental retardation, nonspecific.

Joint instability. Lax joints. Low or weak muscle tone. Decreased length of neck. Thickened skin folds of neck. Thickened skin over the neck. Upward slanting of the opening between the eyelids. Permanent curving of the pinkie finger. Abnormal fertility. Flat nose. Recessed nasal ridge. Loss of developmental milestones.

Mental deterioration in childhood. Downturned corners of the mouth. Downturned mouth. Abnormally large tongue. Increased size of tongue. Large tongue. Decreased width of tooth. Small mouth. Narrow roof of mouth. Having too much body fat. Gaped jawed appearance. Gaped mouthed appearance. Slack jawed appearance. Precociously senile appearance. Prominent tongue. Tongue sticking out of mouth.

Gap between 1st and 2nd toes. Gap between first and second toe. Increased space between first and second toes. Sandal gap between first and second toes. Wide space between 1st, 2nd toes. Wide space between first and second toes. Randi, Simon and Brian Beyerl For new parents of babies born with Down syndrome, the educational brochures that were at their disposal made them feel less than hopeful.

Mayo Clinic's Office of Patient Education knew they could do better, so a team set about creating new materials to provide families with a more optimistic outlook. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission.

This content does not have an English version. This content does not have an Arabic version. Overview The genetic basis of Down syndrome Open pop-up dialog box Close. The genetic basis of Down syndrome There are 23 pairs of chromosomes, for a total of Request an Appointment at Mayo Clinic. Rewriting the Script for Parents of Babies With Down Syndrome Randi, Simon and Brian Beyerl For new parents of babies born with Down syndrome, the educational brochures that were at their disposal made them feel less than hopeful.

Share on: Facebook Twitter. Show references What is Down syndrome? National Down Syndrome Society. Accessed Dec. Down syndrome fact sheet.

Messerlian GM, et al. Down syndrome: Overview of prenatal screening. National Library of Medicine. Down syndrome. Genetics Home Reference. Facts about Down syndrome. This means that Down syndrome occurs in about 1 in every babies. There are three types of Down syndrome. There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests.

A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby.

Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby; no one can predict this. Extra fluid in this region could indicate a genetic problem. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Mosaicism or mosaic Down syndrome is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing Those cells with 47 chromosomes contain an extra chromosome Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome.

However, broad generalizations are not possible due to the wide range of abilities people with Down syndrome possess. The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome. Regardless of the type of Down syndrome a person may have, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells.

The cause of the extra full or partial chromosome is still unknown. Maternal age is the only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from nondisjunction or mosaicism. The additional partial or full copy of the 21st chromosome which causes Down syndrome can originate from either the father or the mother.

Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35 year old woman has about a one in chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in by age At age 45 the incidence becomes approximately 1 in The age of the mother does not seem to be linked to the risk of translocation.

Since many couples are postponing parenting until later in life, the incidence of Down syndrome conceptions is expected to increase.

Therefore, genetic counseling for parents is becoming increasingly important. Still, many physicians are not fully informed about advising their patients about the incidences of Down syndrome, advancements in diagnosis, and the protocols for care and treatment of babies born with Down syndrome.

Heredity is not a factor in trisomy 21 nondisjunction and mosaicism. Most cases are sporadic — chance — events. However, in about one-third of cases, one parent is a carrier of a translocated chromosome.

Once a woman has given birth to a baby with trisomy 21 nondisjunction or translocation, it is estimated that her chances of having another baby with trisomy 21 is 1 in up until age Genetic counseling can determine the origin of translocation. There are two categories of tests for Down syndrome that can be performed before a baby is born: screening tests and diagnostic tests.

Prenatal screens estimate the chance of the fetus having Down syndrome. These tests do not tell you for sure whether your fetus has Down syndrome; they only provide a probability.