Paediatrics: Genetics Flashcards
What is mocaism ?
chromosomal abnormality occurs after conception (occurs in some cell + not others) => different genetic material in different cells in body
What is patau syndrome ? what chromosome affected ?
genetic abnormality - trisomy 13
patau and Edwards syndrome features ?
- Dysmorphic features
- Structural Abnormailites
- LD
- Rocker bottom feet
(quite similar presentation)
what is Edwards syndrome ? what chromosome affected ?
trisomy 18
what is the prognosis for patios and Edwards syndromes ?
babies usually do not survive longer than a week
- about 10% live to 5 yrs
(about the same for both)
what are the dysmophric symptoms of Down’s syndrome ? (8)
- Flattened face
- almond shaped eyes that slant up
- short neck
- small ears
- prominent epicantic folds
- single palmar crease
- tongue tends to stick out of mouth
- increased gap between great toe and first toes
Complications of downs syndrome ?
- LD
- recurrent otitis media
- Deafness
- visual prblems
- Cardiac defects
- leukaemia
- dementia
what cardiac defects are associated with trisomy 21 ?
AVSD
ASD
VSD
PDA
ToF
downs syndrome management ? (4)
MDT approach
- Routine follow up: thyroid checks, echo, auditory, eye checks
What is Kleinfelter syndrome ? what chromosome affected ? males or females affected ?
occurs when male has an additional X chromosome (47 XXY)
(or 48 XXXY, 49 XXXXY)
features of kleifelters syndrome ? what age does it typically present ? (8)
appear as normal males until puberty
- Taller height
- Wider hips
- Gynaecomastia
- weak muscles
- small testicles
- low libido
- Infertility
- Subtle LD
kelinfelter syndrome managment ? (3)
no treatment
- Testosterone injections, IVF, breast reduction surgery
Down syndrome prognosis ? (life expectancy)
life expectancy: 60 yrs
Kleinfelter life expectancy ?
close to normal
What is Turner syndrome ? what chromosome affected ? males or females affected ?
occurs when a female has a single X chromosome (45 XO)
Turner syndrome features ? Maine 3 ? (6)
- Short stature
- Webbed neck
- Wide spaced nipples
- underdeveloped ovaries with reduced function
- late puberty
- infertility
complications of turners syndrome ? (6)
- recurrent otitis media
- Recurrent UTI
- Coarctation of the aorta
- Hypothyroidism
- DM
- LD
Turner syndrome management ?
- GH therapy (short stature)
- Oestrogen + progesterone (secondary sex characteristics + regulate menstrual cycle)
- Fertility treatment
What is Noonan syndrome ? what chromosome ? what inheritance ?
genetic condition caused by several different genes
- mostly autosomal dominant
Noonan syndrome features ? (6)
- Short stature
- Broad forehead
- Wide spaced eyes
- Low set ears
- Webbed neck
- Widely spaced nipples
what is fragile x syndrome ? what chromosome ? what inheritance ?
caused by a mutation in the FMR1 gene (fragile Mental retardation 1 gene) on chromosome X
- x-linked condition (unclear if dominant or recessive)
fragile x syndrome features ?
- usually present with delay in speech + language
- LD
- Long narrow face
- Large ears
- Large testicles
- ADHD/ASD
- Seizures
fragile x syndrome management ?
supportive + treating symptoms
What is Prader-Willi syndrome ? what chromosome ?
genetic condition caused by loss of functional genes of proximal arm of chromosome 15 inherited from father
Prader-Willi syndrome features ?
- constant insatiable hunger (=> obesity)
- hypotonia
- Mild-mod LD
- Hypogonadism
- Anxiety
Prader-Willi management ? (2)
MDT approach
- limit access to food to control weight
- GH (to improve muscle dev + body composition)
What is Angelman syndrome ? which chromosome ?
loss of function of UBEA3A gene on chromosome 15
Angelman syndrome features ?
- fascination with water
- Happy demenour
- Widely spaced teeth
- epilepsy
what is William syndrome ? what chromosome affected ?
caused by deletion of genetic material on one copy of chromosome 7
William syndrome features ?
- very sociable personality (trusting)
- Starburst eyes
- Wide mouth (big smile)
- LD
what is William syndrome associated with ? What heart murmur?
- supravalvular aortic stenosis
- Hypercalcaemia
William syndrome manamgnet ? (1)
MDT approach
- low calcium diet (due to prone to hypercalcaemia)
What is Kallman syndrome ?
Kallman syndrome is a genetic condition causing hypogonadotrophic hypogonadism, resulting in failure to start puberty. It is associated with a reduced or absent sense of smell (anosmia).
A young boy is noted to have a webbed neck, pulmonary stenosis, ptosis and short stature. The karyotype is normal. what is this?
Noonan syndrome
