TRISOMY 18 also known as Trisomy E or
Edwards syndrome
is
a genetic disorder in which a person has a third copy of genetic material from chromosome 1 8, instead of the usual two copies.
Trisomy 18 is a relatively common syndrome. It is three times more common in girls than boys. It is named after John H. Edwards, who first described the syndrome in 1960. It is the second most common autosomal trisomy, after Down Syndrome, that carries to term
Trisomy 18 is caused by the presence of three as opposed to two copies of chromosomes 18 in a fetus or infant's cells.
The incidence of the syndrome is estimated as one in 3,000 live births. The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders.
Clenched hands Crossed legs (preferred position) Feet with a rounded bottom (rocker-bottom feet) Low birth Weight Low-set ears Mental deficiency Small head (microcephaly) Small jaw (micrognathia) Underdeveloped fingernails Undescended testis Unusual shaped chest (pectus carinatum)
Examination of the pregnant woman may show an unusually large uterus and extra amniotic fluid. An unusually small placenta may be seen when the baby is born. Physical examination of the infant may show unusual fingerprint patterns. X-rays may show a short breast bone. Chromosomes study show trisomy 18, partial trisomy, or translocation.
3D ULTRASOUND
Treatment of children with Trisomy 18 is planned on a caseby-case basis. Which treatments are used depends on the patient's individual condition.
50% of infants do not survive beyond the first week of life. Some children have survived to the teenage years, but with serious medical and developmental problems.
Prenatal diagnosis of trisomy 18 is possible with an amniocentesis or chorionic villus sampling and chromosome studies on amniotic cells. Parents who have a child with translocational Trisomy 18 and want additional children should have chromosome studies, because they are at increased risk of having another child with Trisomy 18.
PATAUs SYNDROME
trisomy 13 and trisomy D
also known as
is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Due to the presence of several lifethreatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.
Trisomy 13 was first observed by Thomas Bartholin in 1657, but the chromosomal nature of the disease was ascertained by Dr. Klaus Patau in 1960. The disease is named in his honor. Patau syndrome was also described in Pacific island tribes.
They have : heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers and/or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia).
Trisomy
13 occurs in about 1 in 16,000 newborns. Although women of any age can have a child with trisomy 13, the chance of having a child with this condition increases as a woman gets older.
Most cases of Patau's syndrome result from trisomy 13, which means each cell in the body has three copies of chromosome 13 instead of the usual two copies. Patau syndrome can also occur when part of chromosome 13 becomes attached to another chromosome (translocated) before or at conception.
Medical management of children with Trisomy 13 is planned on a case-by-case. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential.
More than 80% of children with Patau syndrome die within the first month of life
