Patau syndrome

 

This is the congenital syndrome caused by trisomy 13 in which individual dies during infancy because of severe congenital anomalies. It has the following features

  • Micropthalmia

  • Microcephaly

  • Mental retardation

  • Cleft lip and palate

  • Congenital heart disease

  • Umbilical hernia

  • Rocker-bottom feet

  • Renal anomalies

Its karyotype include 47,XX, +13 or translocation 46,XX,+13 or mosaic type such as 46, XX/47,XX,+13.

 

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