PatauSyndrom

PatauSyndrom, also known as Patau syndrome or trisomy 13, is a chromosomal disorder caused by the presence of an extra copy of chromosome 13. Most cases arise from full trisomy 13 in all cells due to nondisjunction during the formation of egg or sperm and are usually sporadic.

In a minority of cases, mosaic trisomy 13 affects some cells, or a chromosomal translocation places extra material on chromosome 13. Most occurrences are not inherited, but in rare instances a parent carries a balanced translocation that increases recurrence risk. Advanced maternal age slightly raises the probability of nondisjunction events.

Clinical features vary but commonly include severe intellectual disability, holoprosencephaly, midline facial defects such as cleft lip/palate, small eyes or poorly developed eyes, polydactyly, microphthalmia, and a range of congenital heart defects, kidney anomalies, and other organ malformations. Other typical findings can include clenched hands with overlapping fingers and rocker-bottom feet. The severity and combination of abnormalities determine outcome.

Diagnosis may be suspected prenatally when ultrasound shows multiple anomalies. Definitive diagnosis is made by chromosomal analysis (karyotype) from fetal cells during pregnancy or from the infant after birth. Prenatal testing such as chorionic villus sampling or amniocentesis can establish trisomy 13.

There is no cure. Management is supportive and multidisciplinary, addressing feeding, breathing, heart defects, seizures, and developmental needs. Most affected newborns die within the first year of life, though a small number survive longer with serious impairments.

PatauSyndrom occurs in about 1 in 10,000 to 15,000 live births. Recurrence risk is generally low but can be higher if a parent carries a balanced translocation.

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