Genetics Flashcards
1
Q
Which maternal conditions increase risk of neural tube defects?
A
Diabetes
Alcohol
Rubella
Valproate
2
Q
Effects of maternal diabetes
A
Macrosomy Polycythaemia Cleft lip/palate Microphthalmia Omphalocele Intestinal obstruction RDS Cardiac defects Hypoglycaemia Hypocalcaemia Tetany Seizures Jaundice Renal agenesis Delayed development
3
Q
Presents age 3-12 years with tiredness, infections, bruising/bleeding, short stature, aplasia of radius, thumb deformities, skin colouration, small head/eyes, learning difficulty, low birth weight, cardiac/gastro/CNS/skeletal abnormalities
A
Fanconi’s anaemia
4
Q
Tests to investigate for Fanconi’s anaemia
A
Ultrasound kidneys (25% have renal malformation) Forearm X-ray Chromosome breakage test confirms the diagnosis
5
Q
'Telephone handle femora' Cupping of metaphyses Large cranium arrow thorax Flattened vertebral bodies
A
Thanatophoric dwarfism
6
Q
Acrocephaly
Facial underdevelopment
Syndactyly
Learning disability
A
Apert syndrome
7
Q
Acrocephaly Brachtycephaly Syndactyly Brachydactyly Learning disability
A
Carpenter syndrome
8
Q
Acrocephaly Scaphocephaly Brachycephaly Hypertelorism Exomphthalmos Increased intracranial pressure Learning disability
A
Crouzon syndrome
9
Q
Associated with cutis aplasia
A
Trisomy 13
10
Q
Cause of Fragile X
A
Unstable trinucleotide repeats in Xq27
11
Q
Initial investigations in a new diagnosis of Turners
A
Assessment of growth Urinalysis 4 limb BP Echo Hearing + vision testing US for renal abnormalities
