Brief overview Course:Individually different degrees of motor and mental disability and organic concomitant diseases. Prognosis:Dependent on severity of disability, medical care and early intervention, life expectancy over 60 years, higher mortality in childhood. Causes: Three (instead of two) copies of chromosome 21 are found in all or some body cells of affected individuals. Symptoms: Short … Down Syndrome (Trisomy 21)
Prenatal Diagnostics Prenatal tests are part of extended prenatal diagnostics. Prenatal diagnostics is the examination and early detection of diseases before the birth of the child in the womb. The examination can be carried out either on the foetus itself or on the mother, for example, the mother’s blood. These examinations can be non-invasive and … Prenatal test
Consequences of the test results for parents and child The possibility of prenatal tests sometimes poses psychologically stressful questions for expectant parents. Nowadays, a lot is possible, but not everything makes sense. Since 2010 it has been a legal requirement that an intensive consultation with the doctor is carried out before prenatal tests are carried … Consequences of the test results for parents and child | Prenatal test
Test for trisomy 21 For a few years now, a blood test has been the standard procedure for detecting trisomy 21 and thus Down’s syndrome in unborn children. It is a non-invasive method, by simply taking a blood sample from the mother. Previously, it was only possible to detect trisomy by amniocentesis or chorionic villus … Test for trisomy 21 | Prenatal test
Gametes are the fertilizable male and female gametes or germ cells. Their diploid (twofold) set of chromosomes has been reduced to a haploid (single) set by prior meiosis (maturation division), resulting in a diploid cell with a twofold set of chromosomes after fertilization, the union of a female and a male gamete. The female gamete … Gamete: Structure, Function & Diseases
What is the life expectancy with Hirschsprung’s disease? Whether or not life expectancy is limited with Hirschsprung’s disease depends on the accompanying malformations that also affect a patient. In 70% of cases, the affected children are completely healthy except for Hirschsprung’s disease. Life expectancy is not restricted and is the same as for other children. … What is the life expectancy with Hirschsprung’s disease? | Hirschsprung’s disease
Definition Hirschsprung’s disease is a rare congenital disease. It occurs with a frequency of about 1 : 3. 000 – 5. 000 affected newborns. The disease manifests itself in the gastrointestinal tract. In one part of the intestine, nerve cells and nerve cell bundles (ganglia) are missing. This is known as aganglionosis. In addition to … Hirschsprung’s disease
Symptoms The symptoms of Hirschsprung’s disease are already apparent in the newborn. The child is conspicuous by a strongly inflated abdomen. On the other hand, the first thin stool (technically called meconium) should be excreted within the first 24 to 48 hours. In newborns with Hirschsprung’s disease, the first stool is given late or usually … Symptoms | Hirschsprung’s disease
Therapy of Hirschsprung’s disease Treatment of Hirschsprung’s disease cannot be conservative, but must be carried out surgically. In the beginning, an artificial bowel outlet is created surgically (anus praeter), so that the bowel can be emptied. The artificial bowel outlet is created in front of the site affected by the disease. This allows the disease … Therapy of Hirschsprung’s disease | Hirschsprung’s disease
Complications Since the stool often fails to pass in newborns with Hirschsprung’s disease, an artificial stool evacuation must be performed. If this is not carried out in time, a complication known as necrotizing enterocolitis can occur, which is an acute, life-threatening disease of the gastrointestinal tract. If the accumulated stool is excessively colonized with bacteria, … Complications | Hirschsprung’s disease
Inheritance in Hirschsprung’s disease Hirschsprung’s disease is an inherited disease. It is not possible to determine a specific gene as the trigger of the disease. Depending on which gene is affected, the disease is inherited autosomal-dominantly or autosomal-recessively. Autosomal-dominant means that if the newborn child inherits a diseased gene from one parent, it is automatically … Inheritance in Hirschsprung’s disease | Hirschsprung’s disease
Definition Meiosis is a special form of nuclear division and is also called maturity division. It contains two divisions, which turns a diploid mother cell into four haploid daughter cells. These daughter cells each contain a 1-chromatide chromosome and are not identical. These daughter cells are needed for sexual reproduction. Introduction In men, the germ … Meiosis
