Genetics + Paediatric Conditions - TAS Flashcards
If the Trisomy 21 = ??
Down’s syndrome
Most commonly associated with cutis aplasia (the failure of skin to form over one part of the skull?)
Patau Syndrome (trisomy 13)
Infantile spasms are a classical presentation of ??
Tuberous Sclerosis
Major criteria of Tuberous Sclerosis?
Ash leaf macules
Angiofibromas
Shagreen Patch
Multiple renal hamartomas
Subependymal nodules
Subependymal giant cell astrocytomas
Cardiac Rhabdomyomas
Ungal fibromas
A rare inherited form of aplastic anaemia?
Fanconi’s Anaemia
Usually presents between the age of 3 and 12, initially presents with tiredness and lethargy, other features include short stature, aplasia of the radius, small head size, discolouration of the skin, learning difficulties and low birth weight?
Fanconi’s Anaemia
Features of Fanconi’s Anaemia?
Tired and lethargy
Pancytopenia (it is another form of aplastic anaemia)
Aplasia of the radius
Short stature
Small head
Learning difficulties
Fanconi’s Anaemia is confirmed by which test?
Chromosomal Breakage Test
25% of patients have a missing kidney or a horseshoe kidney?
Fanconi’s Anaemia
What are the features of Fabry Disease?
Febrile episodes (worse in hot weather)
Alpha-galactosidase deficiency
Burning pain (peripheral neuropathy)
Renal impairment
Y chromosomes affected/ youth death
Cardiovascular disease (MI +/- strokes)
Which antibody crosses into the placenta?
IgG
As a general rule, which type of organisms are children with antibody deficiencies pre-disposed to?
Encapsulated organisms e.g. H. influenzae, Staph. aureus and strep. pneumonie
Immunodeficiency, thrombocytopenia and severe eczema?
Wiskott-Aldrich Syndrome
Immunodeficiency disease with raised IgG and IgE and low IgA
Wiskott-Aldrich syndrome
What are the features of CHARGE syndrome?
Coloboma
Heart defect
Atresia choanae
Retardation of growth
Genital abnormalities
Ear abnormalities
Which conditions do you see butterfly vertebrae in?
Alagille Syndrome
VACTERL
What is Holt-Oram Syndrome?
aka atrio-digital syndrome
Typically presents with ASDs associated with radial ray anomalies
Genetic condition associated most commonly with supravalvular aortic stenosis?
William’s Syndrome
Which cardiac conditions are DiGeorge Syndrome most associated with?
Tetralogy of Fallot
Truncus Arteriosus
Chubby rosy cheeks, friable kinky colourless hair w/ low copper?
Menke’s Disease
What does WAGR syndrome consist of?
Wilm’s Tumour
Aniridia
Genitourinary Malformations
Retardation of Development
If the ratio of males to females is 1:1 - what is the likely inheritance pattern?
Autosomal Dominant or Autosomal recessive
If females are affected more commonly than males, which inheritance pattern is likely?
X-linked dominant inheritance
If no females are affected, think which type of inheritance pattern?
X-linked recessive
If an affected male gives rise to another affected male, which type of inheritance pattern is likely?
Autosomal Dominant
How is Down syndrome most commonly inherited?
Non-dysjunction (during the first meiotic division)
Deletion of the long arm of chromosome 15 (15q 11-13) maternally derived?
Angelman Syndrome
Deletion of the long arm of chromosome 15 (15q 11-13) - paternally derived?
Prader-Willi syndrome
Which conditions are an example of uniparental disomy?
Prader-Willi Syndrome + Angelman Syndrome
Short stature, low IQ, upslanting palpebral fissures, brushfield spots, small ears, downturned mouth, protruding tongue?
Down syndrome
Associated with Atlanto-axial articular laxity?
Down syndrome
Down syndrome is associated with which other conditions?
Atrio-Ventricular Septal Defect
Congenital Hypothyroidism
Oesophageal atresia + Duodenal atresia (double bubble sign on XR)
Increased risk of Alzeimher disease
Trisomy 13 is what condition?
Patau Syndrome
Which condition is associated with cutis aplasia (a scalp defect over the vertex of the skull near midline seen as ulcers/ crusting)
Patau Syndrome
What are the features of Patau Syndrome?
Microcephaly
Eyes - cataracts, colobomata, corneal opacities
Cleft palate
Low set ears
Congenital heart disease
Clinodactyl
What is Edward Syndrome?
Trisomy 18
What are the features of Edward’s Syndrome?
Rockerbottom feet
Overlapping Fingers
Microcephaly
Micrognathia
Cleft palate
Narrow forehead
Congenital Heart defect
Which condition features a tall thin, long armed man with a small penis/ testes?
Klinefelter Syndrome (47 XXY)
Which condition can present at birth with carpal or pedal oedema with hypoplastic nails?
Turner syndrome
Presents with short stature, normal IQ, hearing problems (secretory otitis media), low hairline, webbed neckline, widely spaced nipples and co-arctation of the aorta?
Turner syndrome
Which condition presents around the time of puberty with large ears, large head, large jaw, hyperextensibility of the wrist joints, flat feet and mitral valve prolapse?
Fragile X Syndrome
What is the second most common. chromosomal abnormality after Down Syndrome?
Fragile X Syndrome
Which condition features blue eyes, fair hair, “happy puppet” with easily provoked paroxysms of laughter?
Angelman Syndrome
Associated with Salaam episodes and EEG changes showing slow wave cycles of 4-6 hz?
Angelman Syndrome
Presents with a cat like cry in the first few months which disappears later in life?
Cri-du-chat syndrome
Chromosome 5p deletion
Cri-du-chat syndrome
Presents with hypotonia, hypogonadism, almond shaped eyes and poor feeding initially which then develops into a food craving and pathological appetite?
Prader-Willi syndrome
Characterised by an elfin like face, lively cocktail party manner, supravalvular aortic stenosis?
William’s Syndrome
Characterised by an elfin like face, lively cocktail party manner, supravalvular aortic stenosis?
William’s Syndrome
Associated with pulmonary stenosis and presents similarly to Turners Syndrome but in boys?
Noonan Syndrome
Characterised by IUGR, mental retardation, smooth philtrum, thin upper lip?
Fetal Alcohol Syndrome
Small triangular shaped head with normal IQ, asymmetrical hemihypertrophy of the body, IUGR and hypospadias?
Russell-Silver Syndrome
Associated with sensorineural hearing loss and a white forelock?
Waardenburg Syndrome
A large proportion of babies will have exomphalos?
Beckwith Wiedemann Syndrome
Associated with macroglossia, macrosomia and neonatal hypoglycaemia?
Beckwith-Wiedemann Syndrome
Which neoplasms are Beckwith-Wiedeman Syndrome associated with?
Wilm’s tumour
Hepatoblastoma
Renal cortisol adenoma
What is Alagille Syndrome?
Hypoplasia of interlobular bile ducts leading to neonatal hepatic cholestasis
What are the features of Alagille Syndrome?
Congenital heart disease (peripheral pulmonary stenosis)
Butterfly Vertebrae
Triangular thin face with prominent forehead
Pruritus
What is Shwachman Diamond Syndrome?
Pancreatic insufficiency leading to malabsorption
What is the function of 5 reductase?
Converts testosterone into 5-dihydrotestosterone
What is the function of testosterone and 5-dihydrotestosterone?
Testosterone - male internal organ development
5-dihydrotestosterone - male external organ developemtna
What are the trinucleotide repeat disorders?
Friedrich’s ataxia
Fragile X
Myotonic dystrophy type 1 &2
Spinocerebellar ataxia
Spinal and bulbar muscular atrophy
Huntington’s disease
If the condition is metabolic, what is the likely inheritance?
Autosomal recessive
If the condition is ‘structural’, what is the likely inheritance?
Autosomal dominant
What is the trinucleotide repeat for Fragile X?
CGG
What is the trinucleotide repeat for Myotonic dystrophy?
CTG
What is the trinucleotide repeat for Huntingtons disease?
CAG
What is the trinucleotide repeat for Friedrich’s ataxia?
GAA
What is the trinucleotide repeat for Spinocerebellar ataxia?
CAG
Which conditions are an example of imprinting?
Angelmann’s syndrome
Prader-Willi
Beckwith-Wiedemann Syndrome
Silver Russell Syndrome
Albright-hereditary osteodystrophy
Describe anticipation?
A phenomenon whereby the symptoms of a genetic disorder become apparent at an earlier stage as it is passed on to the next generation
Describe the term epigenetic?
Involves genetic control by factors other than the individuals DNA sequence
Describe the term penetrance?
The probability of a gene or genetic trait being expressed
What is the term heritability?
The proportion of phenotypic variance attributable to genetic variance
Merlin gene on chromosome 22?
Neurofibromatosis 2
Neurofibromin gene on chromosome 17?
Neurofibromatosis 1
Chromosome pairing combinations?
G-C
A-T
(In RNA, thymine is replaced with uracil)
What is the inheritance of Vitamin D resistant rickets?
X-linked dominant
What are the hormonal features of Klinefelter’s syndrome?
Low testosterone
Increased LH and FSH
Normal or increased oestrogen
What conditions are inherited in an X-linked dominant fashion?
Alport’s syndrome
Rett syndrome
Hypophosphataemic rickets
Vitamin D resistant rickets
What is the name for chromosomes that have arms of roughly equal length?
Metacentric
What is the name If arm lengths are unequal on the chromosome?
Submetacentric
What is the name for chromosomes with very small P arms?
Acrocentric
What is the name of the analytic process used to determine the pattern of inheritance for a trait?
Segregation Analysis
What is the inheritance of cystic fibrosis?
Autosomal recessive
Southern blotting technique?
DNA
Northern blotting technique?
RNA
Western blotting technique?
Protein
Which inheritance pattern skips a generation?
X-linked recessive
What is the meaning of aneuploidy?
An abnormal number of chromosomes
What are the purine bases?
Adenine
Guanine
What are the pyrimidine bases?
Cystine
Thymine
Uracil
A condition associated with posterior displacement of the tongue and a cleft palate?
Pierre-Robin syndrome
Cardiac anomalies in Turner syndrome?
Coarctation of the aorta
Aortic dissection
Bicuspid aortic valve
Hypertension
What is a haplotype?
A set of DNA variations that tend to be inherited together
What is a karyotype?
An individuals collection of chromosomes
What are the cardiac anomalies in William’s syndrome?
Supra-valvular aortic stenosis
Peripheral pulmonary artery stenosis
Hypertension
