AGB 121: Principles of Animal Genetics and Population Genetics (2+1)

TRISOMY 13 OR PATAU'S SYNDROME

• Trisomy 13 results from having three copies of chromosome 13 in each cell in the body instead of the usual two copies.
• Trisomy - 13 or Patau’s syndrome was described by K. Patau in 1960.
• It is rare and frequency is about 1 in 20,000 in new born.
• The chromosome nomenclature is 47, +13 Patau Syndrome
• Other names people use for trisomy 13,
  • Bartholin-Patau syndrome
  • Complete trisomy 13 syndrome
  • Patau's syndrome
  • Patau syndrome
  • Trisomy 13 syndrome
• Main phenotypic characteristics,
  • Heart defects,
  • Brain or spinal cord abnormalities,
  • Very small or poorly developed eyes (microphthalmia),
  • Extra fingers and/or toes,
  • An opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and
  • Weak muscle tone (hypotonia).