Trisomy

Below you will find more information about Trisomy from Medigest. If you believe that you are suffering from any of the symptoms of Trisomy it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Trisomy and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Trisomy comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

This disorder is a form of aneuploidy that has a presence of 3 copies instead of the normal 2, of a particular chromosome. An extra chromosome 21, found in Down syndrome, is called trisomy 21.

Diagnosis

To diagnose the disease, conventional cytogenetic studies may be conducted. Echocardiography is performed for cardiac anomalies while barium swallow is an option for gastrointestinal anomalies. Genitourinary anomalies may be discovered through an ultrasonography.

Treatment

There is no cure for the disease and medical care is supportive. Treatment of infections should be continuous. For feedings problems, nasogastric and gastrostomy supplementation should be done. Surgical repair of severe congenital anomalies such as esophageal atresia or congenital heart defects is not seen to improve the survival rate of infants.

Symptoms and Signs

Symptoms of the disease include neonatal hypotonia followed by hypertonia, jitteriness, apnea, and seizures. Cranial abnormalities such as microcephaly, elongated skull, narrow bifrontal diameter, wide fontanels, and prominent occiput may be observed in patients. Facial abnormalities may also be present, which includes narrow palatal arch, infrequent cleft lip and cleft palate, preauricular tags and low-set, malformed ears.

Causes

In full trisomy, the non-disjunction of the cells when dividing to form an egg and sperm cell causes the abnormality. Partial trisomy meanwhile occurs when part of an extra chromosome is attached to one of the other chromosomes. A mosaic trisomy meanwhile happens when extra chromosomal material exists in only some of the organism's cells.

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