Baby Development

What is Down syndrome (mongolismus, trisomy 21)?

What is Down syndrome (mongolismus, trisomy 21)?

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It is seen in about 800 live infants.
In 1866, Langdon Down syndrome was first described clinically. Busendrom, formerly known as mongolism because of its typical facial appearance, is now called “trisomy 21 nedeniyle because of the additional chromosome 21 that causes the disorder.

  • In the majority of cases (95%), there is an extra chromosome from the parent. The number of chromosomes in the child is 47, not 46. There are 3 chromosomes on chromosome 21 (normally 2 chromosomes, one from the mother and the other from the father).
  • Rarely (4%) occurs as a result of translocation (maternal age is not important in this type).
  • % 1 is of mosaic type.

Mild to very severe mental retardation is a disease with a number of symptoms, such as certain facial features of the patient (some are more pronounced in some cases), extremely large tongue and a short neck. The back of the head can be flat, ears small (sometimes curved above), flattened nose and wide. Hearing and visual functions may be poor, with various internal organ defects, particularly in the heart and gastrointestinal tract. Children with Down syndrome are usually short, with muscles loose (defect responsible for part of the growth delay).

The average birth weight of children with Down syndrome is 100-600 g less and 2-3 cm shorter than normal children. The boyishness continues throughout life. As they grow, bone maturation lags behind.

At risk;

  • Children of parents who previously had imperfect children
  • If the mother or father has chromosome defects
  • Those with maternal age above 35 (risk increases with maternal age). It occurs in 2% of babies born to mothers over 35 years of age.
Mother ageFrequency of Birth

In young mothers (under 35 years), the risk of recurrence after a baby with trisomy 21 is approximately 1%. Burisk is proportional to age in mothers older than 35 years.

Other problems that may be seen are;

  • 50% have congenital heart defects.
  • Diabetes
  • Early cataract
  • Epilepsy
  • Dental problems
  • Poor hearing and vision functions
  • Gastrointestinal problems
  • Thyroid dysfunction
  • Early aging
  • Increased risk of Alzheimer's disease (around 40 years)
  • Increased risk of cancer (Leukemia, etc.)

Those without severe heart anomaly can live up to 40-50 years of age. In infancy, infections and especially pneumonia are the most important causes of death except cardiac anomaly.

DIAGNOSIS: “Cytogenetic examinations bebek should be performed in infants who clinically adhere to the definition of down syndrome. Diagnosis is confirmed by chromosome test.

Prenatal diagnosis is possible. Any anomalies in the heart and other systems can be corrected by surgery after delivery. Early special education programs in children with Down syndrome with mild to moderate mental retardation may increase the intelligence coefficient (IQ).

Patients with Down Syndrome who have educated mental retardation can speak late, develop social level to look after themselves and adapt to the environment. They are generally happy, friendly children with imitation, painting and music skills. Few have emotional problems. The vast majority can learn simple professions and play musical instruments.

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