LECTURE IV Flashcards
CHECK ON LEARNING
name some examples of Y-linked heritability?
Retinitis Pigmentosa Auricular hypertrichosis
this Y linked heritability disorder is caused by mutations in the RPY gene which causes it to make faulty versions of proteins needed for normal vision?
Retinitis Pigmentosa
this Y linked heritability disorder causes growth of thick hair on the pinnae of the external ears of males?
Auricular hypertrichosis
this syndrome has an incidence of 1:1000
taller than average with possible slightly reduced cognitive abilities
excessive acne
reports of increased aggression, but findings are controversial
immaturity, swollen joints, arthritis, joint stiffness, impaired joint mobility, chest pain, ND event
Jacobs syndrome
occipital horn disease, cleft palate, Rett syndrome, Gonadal Dysgenesis, Duchenne and Beckar Muscular Dystrophy, Lissencephaly, Retinitis Pigmentosa are examples found on what sex chromosome?
X chromosome, large submetacentric > 200 genes identified
what are some x-linked disorders?
Charcot Marie Tooth disease
hypophosphotemic rickets
hypertrichosis
what is this x-linked disorder?
a group of disorders that affect the peripheral nerves
Charcot Marie Tooth Disease
name this genetic disease:
this X-linked and autosomal (complete or partial) may not be detected until puberty
choices made in rearing at birth if condition known
more psychological issues if reared female
AIS- 46,XY (AR gene)
name this genetic disease:
may not be detected until infertility becomes an issue
gynecomastia (breast enlargement)
Klinefelter’s-4?, XXY-XXXXXXY
name this genetic disorder:
about 75% of 46, XY patients with this syndrome develop as phenotypic females or hermaphrodite, 46, XX females carrying a copy of the Sox9 develop as males
Sox9 is the sex determination gene in lower vertebrates. In mammals, its expression requires SRY
Syndrome also presents with Pierre-Robin, clefting, shortening of long bones, club feet
many affected infants die in neonatal period
Campomelic Dysplasia with Autosomal Sex Reversal
