Name the disorder: hypotonia, brachycephaly (wide head), upslanting palpebral fissures (the opening of the eyes between the eyelids), brushfield spots of iris; adult cataracts, clinodactyly, single palmar crease on hand (aka simian crease).
_____ are due to errors occuring in the initial formation of structures.
_____ are due to disturbances after an organ has been formed.
_____ are mechanical distortions.
Give an example of a deformation.
_____ are abnormalities in tissue organization.
Give 2 terms that describe multiple abnormalities.
_____ are cascades of effects. For example, decrease in amniotic fluid volume can cause disruptions in morphogenesis of the fetus.
_____ are anomalies that consistently occur together due to a single underlying cause. An example is_____
Down syndrome due to trisomy 21
_____ are abnormalities in which traits coincide more often than expected by chance.
_____ genes function in patterning the body axis. They provide identity to particular body regions.
Hox genes determine where _____ and other body segments will grow in a developing human fetus or fruit fly larva.
The cells of the limb bud express different _____ genes depending on how far the limb bud has grown.
Name the disorder: a condition of having more than the normal number of fingers.
Polydactyly is the result of disruption of the _____ gene.
Mutation of the _____ gene causes shorter thumbs shifted down the hand and similar abnormalities in big toes.
_____ gene plays a key role in regulating vertebrate organogenesis.
Growth of digits on limbs and organization of the brain are controlled by concentration gradients of _____.
Sonic hedgehog is a _____, which is a molecule that diffuses to form a concentration gradient with levels of dictating cell fate.
Sonic hedgehog is involved in the zone of _____.
_____ gene controls cell division of adult stem cells and has been implicated in development of some cancers.
*Sonic hedgehog protein is processed into an active ligand by a reaction mediated by _____. The ligand binds a cell surface receptor called _____. Normally, this receptor inhibits activity of _____ mutations, but when sonic hedgehog binds to _____, the inhibition is released.
Name the disorder: unusual eyes, flattened nose, and midline cleft lip and palate; underlying brain abnormality with lack of development of midline cerebral structures.
Increasing sonic hedgehog gene in the frontal nasal prominence promotes mediolateral expansion of the face and ventral forebrain, a condition referred to as _____.
Overexpression of which 2 genes can lead to polydactyly.
Mutation of which enzyme causes Smith-Lemli-Optiz Syndrome?
Smith-Lemli-Optiz Syndrome leads to a block in _____ metabolism. This disturbs sonic hedgehog binding, which is required for the signaling pathway.
Name the disorder: mutation in Patched gene, early age basal cell carcinoma, rib defects.
Name the disorder: mutation in Gli genes; brian tumors, polydactyly.
Name the disorder: mutation in CREBBP gene which interacts with the Gli gene. Patients present with broad thumbs and toes, mental disability, short stature, small head, and facial features.
Achondroplasia is a result of a mutation in the _____ gene. This results in abnormal _____ formation. Normally, this factor has a negative regulatory effect on _____ growth. In the disease the mutated form of the receptor is constitutively active, which leads to severely shortened bones.
fibroblast growth factor receptor 3
Name the disorder based on symptoms: large head, flat nose at bridge, shortened and stubby fingers, trident hand (separation between middle and adjacent fingers).
FGFR3 blocks _____ proliferation.
Almost all cases of _____ involve a mutation of the FGFR3 gene with a _____ transversion at nucleotide _____.
Thanatophoric dysplasia is caused by a mutation in the _____ domain and distal _____ domain of fibroblast growth factor. Its manifestations include short limbs, narrow chest, small ribs, undeveloped lungs, and enlarged head.
Which chromosome determines the fate of the gonadal primordial?
Ovaries produce estrogen, which enables the development of the _____ into the uterus.
Testis produce _____ hormone, which destroys the _____ and produces the hormone _____, which brings about the development of secondary male characteristics.
Which gene is responsible for gonadal differentiation?
What substance is produced by the SRY gene?
testis determining factor (TDF)
46, XX Male syndrome (de la Chapelle syndrome) is caused by a _____ of the _____ gene from the _____ to the _____ chromosome as a result of unequal _____ during meiosis.
In 46, XX Male Syndrome (de la Chapelle syndrome), 10% show symptoms of _____, and _____ tissue is absent.
46, XY Swyer syndrome (pure gonadal dysgenesis) is caused by a _____ mutation of the _____ gene.
loss of function
Name the disorder: normal female genitalia, well-developed Mullerian structures, bilateral streak gonads instead of ovaries or testes, delayed onset of puberty, elevated luteinizing hormone (leading to clitoromegaly).
46, XY Swyer Syndrome (pure gonadal dysgenesis)