Cornelia de Lange

Question 1

symptomy

Answer 1

malformations of the hands and arms
microcephaly
seizures
gastrointestinal problems such as gastroesophageal reflux (GERD)
autism spectrum disorders
underdevelopment of the sexual organs
cleft palate
heart defects
failure of the testes to descend into the scrotum (cryptorchidism)
high, arched eyebrows, or eyebrows that meet in the midline
widely spaced teeth or eyes
hearing loss
excessive hair growth
myopia
dental abnormalities

Question 2

dědičnost geny

Answer 2

AD de novo
NIPBL, RAD21, SMC3, HDAC8, and SMC1A)

Question 3

patof.

Answer 3

remodelace chromatinu
koheze chromatid