trisomy 13


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Related to trisomy 13: Trisomy 18, Trisomy 8

trisomy 13

n.
The condition of having three copies of chromosome 13 that results in a syndrome characterized by severe congenital malformations including craniofacial and cardiac defects, structural brain abnormalities, and polydactyly. Also called Patau syndrome.

trisomy 13

a congenital condition caused by the presence of an extra chromosome in the D group, predominantly chromosome 13, although in rare instances chromosome 14 or 15. It occurs in approximately 1 in 5000 births and is characterized by multiple midline anomalies and central nervous system defects, including holoprosencephaly, microcephaly, myelomeningocele, microphthalmos, and cleft lip and palate. There is also severe mental retardation; polydactyly; deafness; convulsions; and abnormalities of the heart, viscera, and genitalia. Most infants with the condition are severely affected and do not survive beyond the first 6 months of life. The symptom combination of cleft lip and palate, polydactylism, and microcephaly is sometimes identified as the triad. Also called Patau's syndrome, trisomy D syndrome, trisomy 13-15.
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Trisomy 13: midline defect

trisomy 13

Patau syndrome, D1 trisomy syndrome Genetics A congenital defect due to an extra copy of chromosome 13 Clinical Findings in ≥ 50% of Pts: Holoprosencephaly with incomplete development of forebrain and olfactory and optic nerves, accompanied by minor motor seizures, apneic spells, and profound mental defect, microcephaly, deafness, microphthalmia, retinal dysplasia, cleft lip and palate, abnormal helices ± low-set ears, polydactyly, simian crease, pelvic hypoplasia, cardiac defects present in 80% of Pts, including ventricular and/or atrial septal defect, dextroposition of great vessels, cryporchidism, bicornuate uterus, inguinal or umbilical hernias, persistence of embryonic or fetal Hbs Incidence 1:5–15,000 births Prognosis Death usually by age 2

trisomy 13

The presence of three copies of chromosome 13. Patau syndrome. There is microcephaly, cleft lip or palate, deafness, blindness, extra fingers and finger deformity. Such infants rarely survive for more than a few weeks
References in periodicals archive ?
5%) that screened positive, 1 for trisomy 13 and 1 for triploidy.
You explain to your patient that the chance her fetus has trisomy 13 is far lower than 99%, based in part on the very low prior risk given her age.
The genetic origin of trisomy 13 was discovered in 1960 by Klaus Patau and his research group who analysed the clinical data of a female patient born in 1959 (Patau et al.
It went on the market a few months ago under the name Verifi, manufactured by California-based Verinata Health, and can detect with nearly complete accuracy the three most common genetic syndromes in infants: Down syndrome (Trisomy 21), Trisomy 18 (Edward's syndrome) and Trisomy 13 (Patau syndrome.
Jennifer Aldrich, a Portland resident, testified that her baby was diagnosed with trisomy 13 - a genetic disorder that can cause countless formation defects in a fetus and often results in death - five months into her pregnancy.
The researchers believe the same method can be used to detect trisomy 21 (where an extra chromosome 21 causes Down's syndrome) and they are investigating this next, followed by trisomy 13 and 18 (responsible for causing Patau and Edward's syndromes respectively).
Katie died in December of a rare condition called Trisomy 13, which affects just one baby in every 16,000.
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.
Prenatal diagnosis of cyclopia associated to trisomy 13
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.
Trisomy 13, 18 and 21 are 3 of the most prevalent chromosome abnormalities.