Genetic Disorders Test Flashcards
What causes Achondroplasia?
* Its a problem on which chromosome?
20% inherited from parents
80% spontaneous mutation
Problem on chromosome 4
Achondroplasia is caused be an abnoramlity on chromsome 4. It leads to what issues?
Leads to slow bone development due to slow cartilage turning into bones (think as bones are being formed)
NOTE: Diagnosis is made prior to birth by fetal ultrasound, genetic testing, and noninvasive methods. After birth the diagnosis is made by physical exam, X-rays, and genetic testing
How long do individuals w/ achondroplasia live?
10 years less than average
What would someone w/ Achondroplasia look like?
Short stature (about 4 ft adult height), disproprotionate limb shortening, large head and prominent forehead, delayed motor development, frequent ear infections
* this makes sense. Their bones don’t grow well so of course thier limbs are short and they’re short
What causes Angelman syndrome?
* does paternal or maternal have a lack of expression?
Genetic mutation on chromosome 15 - which leads to a lack of expression of the maternal copy in the brain
What is the life expectancy of someone w/ angelman syndrome?
Near normal
What does someone w/ angelman syndrome look like?
Smaller head, short and broad skull, widely spaced teeth, developmental delay, microcephaly, seizures, low tone
What do people w/ angelman syndrome love?
Water
What chromsome is impacted w/ Cri Du Chat?
5
What is life expectancy w/ Cri Du Chat?
most pre mature deaths due to this syndrome occur during the first year of life
after the first year life expectancy is well into the 50s
What does the pts cry sound like w/ Cri Du chat?
A cat
pt w/ cri du chat have:
* developmental delay in cognitive and motor skills. Such as gross motor skills, oral motor skills, and language skills
* Mal growth
* microcephaly
* weird looking face
What causes Fragile X syndrome?
Mutation on the Fragile X gene on the X chromsome
Who gets fargile X more male or female?
Male because they only have 1 X gene
What is the life expectancy w/ fragile x syndrome?
Normal, but not very many of them live idnependenlty
Side effects of fragile X:
* Seizures
* Sleep Disorders
* Self-injury
* Obesity
* agression
What does someone w/ fragile X look like?
Long narrow face, prominent ears, jaw, and forehead
enlarged testicles
Hyperextensible joints, flat feet
What causes Klinefelter syndrome?
The Acqusition of the extra X chromsome
2 or more X chromsoeomes in a male
Is Klinefelter syndrome inherited?
No
What is life expectancy of someomne w/ Klinefelter syndrome?
5-6 years less than average
What does someone w/ Klinefelter syndrome look like?
Taller
Decreased muscle mass
Decreased body/hair
Small testes/penis
more breast
NOTE: only males can have this
What causes marfan syndrome?
* is it inherited?
Inherteied genetic mutation on FBN-1 gene
Life expetancy w/ marfan?
70
imapcted by cardiac pathology
how muhc is marfan passed to children?
50%
What would someone w/ marfan look like?
would have long arms, legs, fingers, and toes
Hypermobile joints
Vision issues
What causes neurofibromatosis
chromosome 17
* a chromosome that impacts brain and bone health
Life expectancy of someone w/ neurofibromatosis?
About 8 years less than general pop
Common s/s w/ neurofibromatosis
Flat Brown spots
Bone defomroties
Tumors
cancer is common
What causes Phenylketonuria?
Chromosome 12 issue
WHat is life expectancy like w/ Phenylketonuria?
normal
Who carries the genes for phenylketonuria?
Both mom and dad need to be carries
S/s w/ phenylketonuria
seizures
sweat smells bad
have restricted protein intake due to inability to process some proteins –> need to be taking supplemental vitamins and minerals
what do people w/ Phenylketonuria need to avoid?
Avoid Aspritane
Prader willi is a disorder of which chromosome?
15
Life expectancy of prader willi?
late 60s
S/s of prader willie?
Poor temperature regulation
Hyperphagia = leads to obesity
What causes Tay Sachs
Defect in Hex A gene on chromosome 15
S/S of Tay Sachs
Cherry red spot
Seizures
Macrocephaly
Blindness
Life expectancy w/ Tay Sachs?
3-5 years
Turner Syndrome cause
X chromosome is missing or partially missing
who does turner syndrome only affect
females
life expectancy w/ turner syndrome?
decreased by 10-15 years
S/S of turner syndrome?
Heart issues
Rett Syndrome cause
Mutation in the methylcytosine binding protein 2 gene
Rett syndrome life expectancy?
40-50
S/S of rett syndrome
microcephaly
seizures
they dont talk
