Genetics Flashcards
1
Q
Features of downs syndrome
A
Characteristic facies Short neck Single palmar creases Incurved and short 5th finger Wide sandal gap Hypotonia Congenital heart defect typically AVSD Dudodenal atresia Hirschsprung disease
2
Q
Downs syndrome craniofacial appearance
A
Round face Flat nasal bridge Upslanted palpebral fissures Brushfield spots on iris Small mouth Protruding tongue Small ear Flat occiput Third fontanelle
3
Q
Downs syndrome medical complications
A
Delayed motor milestones Learning difficulty Short stature Increased susceptibility to infections Hearing impairment from secretory otitis media Visual impairment: cataracts, squint, myopia Risk of leukaemia and solid tumours Acquired hip dislocation Antaloaxial instabiity Hypothroidism and coeliac disease Epilepsy Early onset Alzheimers Infertility and pregnancy complications
4
Q
Features Edwards syndrome
A
Low birthweight Prominent occiput Small mouth and chin Flexed overlapping fingers Short sternum Rocker bottom feet Cardiac and renal malformations
5
Q
Features patau syndrome
A
Structural defect of brain Scalp defects Small eyes Eye defects Cleft lip and palate Polydactyly Cardiac and renal malformations
6
Q
Features Turners Syndrome
A
Lymphoedema of hands and feet in neonate Short stature Spoon-shaped nails Neck webbing Wide carrying angle Widely spaced nipples Congenital heart defects esp. coarctation of the aorta Delayed puberty Ovarian dysgenesis (infertility) Hypothyroidism Renal anomalies Pigmented moles Recurrent otitis media Usually normal intellect
7
Q
Ix Turners Syndrome
A
Antenatal US: large nuchal translucency
High LH and FSH <4y and >10y
Low LH and FSH 4-10y
Karotype 45X
8
Q
Mx Turners Sydnrome
A
Growth hormone therapy
Oestrogen replacement
IVF
9
Q
Cx Turners Syndrome
A
Presence of Y chromosome increased risk of gonadoblastoma
10
Q
Features of Klinefelter Syndreom
A
Infertility Hypogonadism with small testes Normal pubertal development Gynaecomastia in adolescenc Tall stature
11
Q
Examples AR disorders
A
Congenital adrenal hyerplasia Cystic fibrosis Friedreich Ataxia Galctosaemia Glycogen storage disorders Hurler syndrome Oculucutaneous albinism sickle cell disease Tay-Sachs disease Thalassaemia Werdnig-Hoffmann disease (SMA1)
12
Q
Examples X-linker recessive disorders
A
Colour blindness Duchenne and Becker Muscular Dystrophy Fragile X G6PD deficiency Haemophilia A and B Hunter syndrome
13
Q
Examples AD disorders
A
Achondroplasia Ehlers-Danlos Syndrome Familial hypercholestrolaemia Huntington disease Marfan syndrome Myotonic dystrophy Neurofibromatosis Noonan syndreom Osteogenesis imperfecta Otosclerosis Polyposis coli Tuberous sclerosis
14
Q
Features Fragile X syndreom
A
Moderate to severe learning difficulty Macrocephaly Macroorchidism postpubertal Characteristic facies Mitral valve prolapse Joint laxity Scoliosis Autism Hyperactivity
15
Q
Facial features Fragile X
A
Long face
Large everted ears
Prominent mandible
Broad forehead
