Pallister Killian

Question 1

příčina

Answer 1

somatická mozaika tetrasomie 12p

Question 2

fenotyp Pallister Killian

Answer 2

• brain atrophy, agenesis of the corpus callosum, polymicrogyria of the brain,
• deafness and/or blindness;
  -autonomic nervous system dysfunctions such as anhidrosis, hypohidrosis,
• mild to severe intellectual disability;
• epileptic seizures;
• heart and/or anal defects;
• diaphragmatic hernias;
• marked muscle weakness;
• supernumerary nipples;