Genetics Flashcards
What is the sequence of foetal akinesia?
baby not moving possible due to neuromuscular abnormalities in the womb, therefore lungs don’t develop properly so struggles to breathe when born. Can also have contractures due to lack of joint movement and skin tightening as not enough stretch of the skin
Can also have cleft palate
What is amniotic bands?
Amniotic bands, thin strand of amnion has got wrapped round baby’s arm (deformation)
Then see disruption in hand, shortened fingers and the end of little has fallen off due to disrupted blood supply
What is VATER?
An association between vertebral anomalies ano-rectal atresia tracheo-oesophageal fistula radial anomalies
What is the genetic abnormality of Turner syndrome and what is the presentation?
45X, partial or complete deletion of second X chromosome Poor growth Short stature Delayed/absent pubertal development Primary amenorrhoea Congenital heart defects (aortic coarctation and bicuspid aortic valve) Skeletal abnormalities Webbed neck Peripheral lymphoedema Dysmorphic features Secondary amenorrhoea Multiple melanocytic naevi Recurrent/severe otitis media Systolic ejection murmur and/or click Poor social skills Upper extremity hypertension Dystrophic and/or hyper-convex nail Premature ovarian failure
What is Marfan syndrome and what is the presentation?
Autosomal dominant condition of connective tissue where there is loss of elastic tissue The essential simplified criteria for diagnosis are 3 out of the 4 following findings: relevant family history, specific musculoskeletal abnormalities, ocular lens subluxation, and aortic dilation/dissection, Skin striae, dural ectasia, hernias, pneumothorax, and emphysematous bullae on CXR may also be noted. Tall stature Wide arm span High arched palate Arachnodactyly Pectus excavatum (funnel chest) Pectus carinatum (pigeon breast) Scoliosis Flat feet (pes planus) Dislocated/subluxed eye lens Myopia and/or astigmatism Retinal abnormalities Joint hypermobility Cardiac abnormalities (aortic valve murmur, mitral valve murmur) Hx of treatment for dental crowding Glaucoma Spontaneous pneumothorax Joint pain Inguinal/abdominal/incisional hernias Dyspnoea Signs of heart failure
What is the genetic mutation and presentation of Klinefelter syndrome?
47XXY (two copies of the X chromosome) Growing taller than expected for the family Long arms and legs) Broad hips Poor muscle tone and slower than usual muscle growth Reduced facial and body hair that starts growing later than usual Small penis and testicles Gynaecomastia Infertility Low sex drive, Type 2 diabetes Osteoporosis Cardiovascular disease and blood clots Lupus Hypothyroidism Anxiety, learning difficulties and depression Male breast cancer
What is the genetic abnormality and presentation of Edwards’ syndrome?
Trisomy 18 normally fatal soon after birth or before one year old
low birthweight
a small, abnormally shaped head
a small jaw and mouth
long fingers that overlap, with underdeveloped thumbs and clenched fists
low-set ears
smooth feet with rounded soles
a cleft lip and palate
an exomphalos
Cardiac defects (ASD, VSD, PDA)
kidney problems (hydronephrosis, renal agenesis, horseshoe kidney and cystic kidney)
feeding problems – leading to poor growth
breathing problems
hernias in the wall of their stomach
bone abnormalities – such as a curved spine
frequent infections of the lungs and urinary system
severe learning disability
What is the genetic abnormality and presentation of Patau’s syndrome?
Trisomy 13
Not compatible with life
What is the genetic abnormality and presentation of Down’s syndrome?
Trisomy 21 Typically include brachycephaly with a flat occiput; epicanthal folds in addition to upslanting palpebral fissures and Brushfield spots of the iris; a short nose with a low nasal bridge and small nares; small ears that may be low-set; a protruding tongue; a down-turned mouth with a small oral cavity; extra skin on the back of the neck; short hands with a possible single palmar transverse crease; digital dermatoglyphics; fifth finger clinodactyly; a wide space between first and second toes with vertical plantar creases; and hypoplasia of iliac wings. Hypotonia Congenital heart disease (ASD, VSD, PDA and tetralogy of Fallot) Gross motor delay Language delay Cognitive disability Hearing loss Autism spectrum disorder Congenital GI disorder Constipation Feeding difficulty
What is the genetic mutation of DiGeorge syndrome and what is the presentation?
22 chromosome deletion (CATCH 22) Facial features (bulbous nose and low set ears) Cleft lip and palate Growth failure Hypocalcaemia Seizure or tetany (due to calcium levels) Feeding difficulty Speech delay Non-verbal learning disorder Frequent infections Schizophrenia Cardiac defects (Tetralogy of Fallot, VSD, Truncus Arteriosus, interrupted aortic arch) Thymic hypoplasia
