Important Conditions Flashcards
What is trisomy?
A condition in which there is an extra copy of chromosome present in the cells nuclei leading to development abnormalities
What is monosomy?
A condition in which only one chromosome from a pair is present in cells rather than the two normally found in diploid cells
What is Down’s Syndrome?
Trisomy 21
What are the features of Down’s Syndrome?
Low IQ (less than 50)
Low muscle tone
Short stature
Flat nasal bridge
Protruding tongue
Higher risk of some conditions - epilepsy,
What is Turner’s Syndrome?
Monosomy X - each cell in individuals body only has one copy of the X chromosome instead of two
Who does Turner’s Syndrome occur in?
Only in females
Affects around 1 in every 2,000 - 2,500 live female births
What are the features of Turner’s Syndrome?
May be born with swollen hands and feet due to excess fluid but will resolve after birth.
Thick neck tissue
Swelling of neck
Being a small baby
Heart conditions
Kidney abnormalities
Growth slows down after year 3
What is William’s Syndrome?
Deletion of genetic material from a specific region of chromosome 7.
Deleted region includes 25-27 genes.
What are the features of William’s Syndrome?
Wide mouth with pronounced bottom lip
Upturned nose with flattened bridge
Slightly high rounded cheeks
Irregular or widely spaced teeth
Starburst eyes
Squint
Low birth weight
Poor feeding
Sleep problems
Heart problems
What is alcohol fetal syndrome?
When a mother drinks alcohol during pregnancy, passing the alcohol in the blood to the baby via the placenta
Characteristics of Foetal Alcohol Spectrum Disorder
Movement, balance, vision and hearing problems
Learning difficulties
Difficulty managing emotions
Hyperactivity and impulsive
Difficulty communicating
Facial symptoms of Foetal Alcohol Syndrome
Small eyes
Thin upper lip
Short upturned nose
Smooth skin surface between nose and upper lip
What is angel-man syndrome?
Child not getting copy of UBE3A from mother - or it not being active
Characteristics of Angel-man Syndrome
Frequent laughing and smiling
Easily excitable
Restless
Short attention span
Trouble sleeping
Fascination of water
Tendency to stick tongue out
Crosses eyes
Paler than family members
Wide mouth and widely spaced teeth
Scoliosis
Walking with arms in the air
What is Edward’s Syndrome?
Trisomy 18
Features of Edward’s syndrome
Low birth weight
Heart, respiratory, kidney, gastrointestinal conditions
What is Huntington’s disease?
An inherited condition that stops parts of the brain working properly over time
What is the inheritance pattern of Huntingdon’s disease?
Autosomal dominant
Chances of Hungtington’s Disease being passed down
50-50
What are the symptoms of Huntington’s disease?
Difficulty concentrating
Depression
Stumbling and clumsiness
Involuntary jerking or fidgety movement to
Mood swings
Problems swallowing
What is cystic fibrosis?
Inherited condition that cases sticky mucus to build up in lungs which can cause infections and problems digesting food
What is the inheritance pattern of cystic fibrosis?
Autosomal recessive
What is sickle cell disease?
A group of inherited diseases that cause problems in the red blood cells - the most serious is sickle cell anaemia
What happens in sickle cell anaemia?
Blood is chronically low in oxygen due to the different shape in the red blood cells
