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Syndrome Patau (a syndrome of trisomy on a chromosome 13)
Last reviewed: 23.04.2024
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The Patau syndrome (trisomy on the 13th chromosome) develops in the presence of an extra 13th chromosome and includes malformations of the forebrain, face and eyes; marked mental retardation; low birth weight.
The Patau syndrome (trisomy on the 13th chromosome) occurs in about 1/10 000 live births; about 80% of all trisomy 13 occurs. With the age of the mother, the probability of having a child with the Patau syndrome increases, and the extra chromosome, as a rule, goes to the child from the mother.
What causes the Patau syndrome?
Children with the syndrome are more likely to be born in women older than 35 years. The probability of re-birth of a child with trisomy on chromosome 13 in families does not exceed 1% and is not a contraindication for repeated childbirth.
Symptoms of the Patau syndrome
Children are born small by the time of gestation. Anomalies of the middle line (for example, defects of the scalp, skin sinuses) are characteristic. Goloprozensefaliya (violation of normal separation of the forebrain) is common. Concomitant anomalies of the face are often cleft lip and palate. Microphthalmia, colobomas (iris clefts) and retinal dysplasia are also common. The supraorbital margin is not pronounced, the eye slits are often narrow. The auricles are irregularly formed and are usually low lying. Often the child is deaf. Friable folds of the skin are often located on the back of the neck. Also common are the monkey fold (the only transverse furrow on the palm), polydactyly, excessively convex narrow nails. Approximately 80% of cases are severe congenital malformations of the cardiovascular system; often occurs dextrocardia. Anomalies of the genital organs are frequent in both boys and girls; in boys, cryptorchidism and scrotal anomalies are observed, and girls are characterized by the presence of a two-legged uterus. In the first months of life, there are often episodes of apnea. Heavy mental retardation is noted.
Patau syndrome is characterized by congenital defects of the eyes (coliboma of the iris, microphthalmos and anophthalmos), non-spreading of the upper lip and / or palate, aplasia of the scalp, postaxial polydactyly, congenital heart defects and holoproencephaly. Characteristic of the presence of multiple congenital malformations of the brain and deep mental retardation. High lethality - no more than 10% of children live up to 1 year.
Diagnosis of the Patau syndrome
The diagnosis can be assumed prenatally for violations of ultrasound of the fetus (for example, retardation of fetal development) or the results of a screening examination of the mother, and after the birth of the child by his characteristic appearance.
Confirmation in both cases is conducted in the study of the karyotype.
[What tests are needed?
Who to contact?
What is the prediction of the Patau syndrome?
In the majority of patients (80%), the Patau syndrome is accompanied by such severe developmental anomalies that they die in the first month of life; less than 10% live more than one year.