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 ?
In a pregnant woman, NIPT results at 13 and 17 weeks showed a double aneuploidy, trisomy 13, and monosomy 18.
Therefore, this approach could also be applicable for the detection of other common fetal aneuploidies such as trisomy 18 and trisomy 13.
We examined DNA samples from trisomy 21 individuals (n = 48), trisomy 18 individuals (n = 10), and trisomy 13 individuals (n = 3) with T21-1/T21-2, T18-1/T18-2, and T13-1/T13-2 assays, respectively.
She went on to report that three of the fetuses died in utero, two underwent elective termination, and one fetus with trisomy 13 was delivered at 36 weeks' gestation and died on the first day of life.
Based on breakthrough technology, this new DNA-based approach for detecting Down syndrome (Trisomy 21), and Trisomy 18 and Trisomy 13 in a single test, with universal ethnic coverage, and high sensitivity and specificity has the potential for launch as early as June 2009, along with the RNA-based approach.
3 and 12, and the 2 samples with karyotypes indicative of fetal trisomy 13 (T13) had NCVs of 2.
Three cases had Di George syndrome and two cases had trisomy 13.
NASDAQ: SQNM) today announced new data showing the discovery of DNA methylation markers for Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) and identification of chromosome RNA-SNP markers for early detection of Trisomies 18 and 13.
MLPA/rtPCR reproducibly detects cases of trisomy 13, 18, and 21 in a single reaction.
One of the 14 with CNS abnormalities had trisomy 13 syndrome; no etiology was determined in the remaining cases, but the findings suggested anemia might be an important mechanism for CNS abnormalities, Dr.
This new DNA approach has demonstrated in early studies universal ethnic coverage, high sensitivity and specificity, and the ability to detect Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) in a single test.
Second, the results obtained for the small number of trisomy 13 and 18 cases examined by Fan et al.