Cell structure 3: genetics

32 important questions on Cell structure 3: genetics

Found if there are more then 5 one inch spots on baby

NF1

Fibros tumors come off of spine

NF1

Bilateral acoustic neurofibromatosis

NF2
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Affects inner ear; messes up hearing and balance

NF2

Autosomal recessive disorder

inborn error of metabolism thus accumulation of dietary substance

Phenylkentonuria and tay-sachs are examples of

autosomal recessive disorders

Tested on babies with finger/toe prick

phenylketonuria

Lipid storage in nervous tissue and neurons of CNS

tay-sachs

Babies wont live past five

tay-sachs

Males affects. females carry trait

single gene X-linked disorder

Triplet repeat mutations

fragile x syndrome

Having abnormally large testes

macroorchidism

Fragile x syndrome description

failure of chromatin to condense, long repeating sequence leads to mental retardation
macroorchidism
no cure but can screen and diagnose
mother carries, son gets
link to autism?

Info is playing telephone and response is seemingly inappropriate

fragile x syndrome

Multiple things happened to mother during fetal development

multifactorial

Being carried in the womb between conception and delivery

gestation

Cleft lip and palate

35th day of gestation

Babies without thymus with digeorge

have poor immune system
leads to death from common infection
only way to save baby is thymus transplant
often babies are born early and dont make it

Example of chromosomal disorder of autosomes

trisomy

A polysomy of the 21st chromosome during meitosis 1

trisomy

Monosomy x and polysomy x are examples of

chromosomal disorders of the sex chromosome examples

Info from only one parent; missing sex info

monosomy x

Females are born with no gonads

monosomy x

Monosomy x description

female child is without gonads, ovaries, sometimes hear issues
no ovaries no estrogen (no breasts/ pubic haor)
cant have children but can receive hormones to curve out

Testicular dysgenesis and ultimately degeneration

polysomy x

Polysomy x description

usually older parents
born with testes but estrogen is strong and testes dont grow
no muscular development/ hair
voice doesnt get deeper
cannot make sperm

Women dont notice they are pregnant until usually

35 days

Most common infections associated with congenital anomalies

TORCH

Toxoplasmosis, other rubella, cytomegaly virus and herpes are

the most common infection associated with congential anomalies

If mother with TORCH is shedding __ is needed

C section

Fetal alcohol syndrome

baby goes into seizures in withdrawl once cut from mother and may die

Small dip in upper lip

smooth philtrum

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