Genetic Problems Flashcards
What is Down’s syndrome?
Trisomy 21
What are the features of Down’s syndrome?
Hypotonia Brachycephaly Flattened face Prominent epicanthic folds Single palmar crease Brushfield spots
What is brachycephaly?
Flattened area at the back of the skull
What are the complications of Down’s syndrome?
Learning difficulties Deafness Recurrent otitis media Visual problems Cardiac defects Leukameia Dementia
What cardiac defects are associated with Down’s syndrome?
ASD
VSD
PDA
Tetralogy of Fallot
How is Down’s syndrome screened for?
Combined test
Triple test
Amniocentesis
Chorionic villus sampling
When is the combined test for Down’s syndrome done?
11-14 weeks gestation
What is the combined test for Down’s syndrome?
Ultrasound - measures nuchal translucency
Maternal blood tests
When is the triple test for Down’s syndrome done?
14-20 weeks gestation
What is the triple test for Down’s syndrome?
B-HCG
AFP
Serum oestriol
What is Turner’s syndrome?
Single X chromosome
What are the features of Turner’s syndrome?
Short stature Webbed neck Widely spaced nipples Cubitus valgus Infertility
What is cubitus valgus?
Forearm angled away from body at a greater angle than expected when the arm is straight
What are complications of Turner’s syndrome?
Recurrent otitis media Coarctation of the aorta Recurrent UTI Hypothyroidism Hypertension
What is Patau syndrome?
Trisomy 13
What are features of Patau syndrome?
Microcephaly Small eyes Cleft lip/palate Polydactyly Scalp lesion
What is Edward’s syndrome?
Trisomy 18
What are features of Edward’s syndrome?
Micrognathia
Low set ears
Rocker bottom feet
Overlapping fingers
What is micrognathia?
Small jaw
What is noonan syndrome?
Autosomal dominant genetic condition
What are features of Noonan syndrome?
Short stature Webbed neck Hypertelorism Prominent nasolabial folds Pectus excavatum
What is hypertelorism?
Wide space between eyes
What are complications of Noonan syndrome?
Congenital heart disease
Cryptorchidism
Learning disability
Increased leukaemia risk
What congential heart disease is associated with Noonan syndrome?
Pulmonary stenosis
What is Klinefelter syndrome?
XXY
What are features of Klinefelter syndrome?
Tall Wide hips Gynaecomastia Small testicles Infertility
What is Prader-Willi syndrome?
Partial deletion of chromosome 15
What are features of Prader-Willi syndrome?
Constant hunger -> obesity
Hypotonia
Hypogonadism
How is Prader-Willi syndrome managed?
Dietician
Growth hormone
What is William syndrome?
Partial chromosome 7 deletion
What are feaures of William syndrome?
Starburst eyes
Wide mouth
Very sociable
What are complications of William syndrome?
Supravalvular aortic stenosis
Hypercalcaemia
Hypertension
What is fragile X syndrome?
Mutation of FMR1 gene on X chromosome
What is the inheritance pattern of fragile X syndrome?
X-linked
What are features of fragile X syndrome?
Learning difficulties Macrocephaly Long face Large ears Macro-orchidism
