trisomy 18


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Related to trisomy 18: trisomy 13

trisomy 18

n.
The condition of having three copies of chromosome 18 that results in a syndrome characterized by severe congenital abnormalities including craniofacial and cardiac defects, intellectual disability, and deformities of the hands and feet. Also called Edwards syndrome.

trisomy 18

a congenital condition caused by the presence of an extra chromosome 18, characterized by severe mental retardation and multiple deformities. Among the most common defects are scaphocephaly or other skull abnormalities; micrognathia; abnormal facies with low-set malformed ears and prominent occiput; cleft lip and palate; clenched fists with overlapping fingers, especially the index over the third finger; clubfeet; and syndactyly. Ventricular septal defect, patent ductus arteriosus, atrial septal defect, and renal anomalies are also common. The condition occurs in about 1 in 3000 births and predominantly in females, at a 3:1 sex ratio, and survival for more than a few months is rare. Also called Edwards' syndrome, trisomy E syndrome, trisomy 16-18.

trisomy 18

Edwards syndrome A chromosome defect due to duplication of chromosome 18 Clinical Mental retardation, hypotonia, polyhydramnios, FTT, small placenta, low-birth-weight, micrognathia, ASD, VSD, PDA, horseshoe kidney, unilateral or double kidney, double ureter, inguinal or umbilical hernia, nail hypoplasia, cleft lip and palate, deformed skull, low-set malformed ears, short sternum, cryptorchidism Incidence 1:3-11,000 Prognosis Death usually by age 2

trisomy 18

chromosomal abnormality (three rather than two chromosome 18) causing development of Edwards' syndrome
References in periodicals archive ?
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as down syndrome: an international collaborative study.
According to the US National Institutes of Health "many infants with trisomy 18 die within their first month.
Chris, 31, a chartered engineer, said: "Most Trisomy 18 children are severely disabled when they born and there is no cure.
Instead of requesting the repair of a cleft lip in their otherwise cognitively normal child, suppose parents want the procedure for their one-year-old child with Trisomy 18.
Using the blood test, researchers accurately diagnosed nine cases of Down syndrome, two cases of another genetic disorder, trisomy 18, and one case of trisomy 13, all among 18 pregnant women.
Medical diagnoses varied and included congenital conditions (myopathy, trisomy 18, heart disease, and cerebral palsy) and acquired medical conditions (apoxic event, meningitis, and aneurysm).
Population-based analyses of mortality in trisomy 13 and trisomy 18.
Although anencephaly, trisomy 13, and trisomy 18 were associated with the highest rates of in-hospital death, the largest total numbers of deaths associated with neonatal hospitalizations occurred in infants with diaphragmatic hernia and renal agenesis.
An ultrasound conducted that day revealed a normal fetal morphology, with the exception of continually clenched hands, a marker for Trisomy 18.
Edwards Syndrome is caused by an extra copy of chromosome 18 and is also known as trisomy 18.
IT'S almost a week since the death of 10-month-old Luke Winston-Jones, a severely disabled baby whose life prospects were limited because of Edwards syndrome (also known as trisomy 18 -- a chromosomal disorder).
1,2,5-7,11,13) The prognosis for fetuses with trisomy 18 is highly unfavorable.