Genetics

Question 1

Turner’s syndrome genotype

Answer 1

45 X0- missing an X chromosome

Question 2

Short stature, webbed neck, widley spaced nipples with a broad chest indicates what genetic abnormality

Answer 2

Turners

Question 3

What congenital heart defect is seen in Turner’s syndrome

Answer 3

Coarctation of the aorta and a bicuspid aortic valve

Question 4

Three complications of turners

Answer 4

Recurrent UTI and otitis media
Hypothyroidsm
Osteoperosis

Question 5

What is kleinfelters

Answer 5

Associated with karyotype XXY- where males have extra X chromosome

Question 6

Distinguishing features of kleinfelters

Answer 6

Firm small testicles
Raised estradiol
Long limbs
Tall and slim
Elevated LH and FSH

Gynaecomastia

Question 7

What is Downs and what are the most common features

Answer 7

Trisomy 21

Leads to dysmorphic features

Hypotonia and brachycephaly
Short neck and short stature
Single palmar crease

Question 8

Common complications of Downs

Answer 8

Deafness and recurrent glue ear
Hypothyroidism
Cardiac defects occur in 1/3
Visual problems
Leukaemia

Question 9

What is the aetiology of fragile x

Answer 9

Caused by FMR1 gene mutation, leading to a trinucleotide repeat disorder

Question 10

Fragile X distinguishing features

Answer 10

Intellectual disability
XL things - long face, large ears and testicles
Hyper mobile joints

ADD and autism

Question 11

What is the Pathophys of Marian syndrome

Answer 11

Autosomal dominant condition affecting fibrillin

Question 12

Distinguishing features of Marafans

Answer 12

Tall with long limbs and neck
Long fingers (check thumb length)
High arched palate
Hyper mobility of joints
Pectus abnormalities