Li-Fraumeni syndrome cancersSBLAB
sarcoma,breast,leukemia,adrenal gland,bladder pathologygenetics May 13, 2019, 7:19 AM HirotoShishido
variable expressivity
examplespatients with the same genotype have varying phenotypes
(⇔pleiotropy= one gene contributes to multiple phenotypic effects eg PKU)
NF1(two patients have varying disease severity), cystic fibrosis genetics Sep 18, 2019, 3:42 AM HirotoShishido
trisomy 18 physical findingsEdward synd (Election age)
PRINCE Edward
Prominet occipit→ ★celebellar hypoplasia, Rocker-bottom feet, Intellectual disability, Nondisjunction, Clenched fists with flexion contractures and ★overlapping fingers, low set Ears
★micrognathia(a small lower jaw), congenital heart disease, omphalocele, horseshoe kidneys genetics国試過去3回 Mar 30, 2019, 2:27 AM HirotoShishido
cells in which telomere length is maintained by telomerasecells with high turnover rate
→☆hematopoietic stem cells, epithelial
cells, lymphocytes geneticsUWorld Feb 13, 2020, 9:20 PM HirotoShishido
early and late onset of Alzheimer's diseaseeary→ associated with Amyloid precursor protein(APP) (on chromosome 21)
☆presenilin-1,2
menopause in Turner syndromemenopause before menarche
both copies of the X chromosome are required to prevent premature follicular atresia→☆premature follicular apoptosis reproductivegenetics Oct 19, 2019, 1:47 AM HirotoShishido
