Genetic disordrs Flashcards
What causes turner’s syndrome?
Missing an X chromosome aka 45 X
What are the dysmorphic features of Turner’s Syndrome?
- Increased carrying angle
- Low Hairline
- Wide spaced nipples
- Sandle Gap
- Short Stature
- Lymphoedema
What congenital cardiac disease is often associated with Turner’s Syndrome?
Coarctation of the Aorta
What conditions does Turner’s predispose you to?
Hypothyroid
UTI
Osteoporosis
HTN
Summary of Turner’s Syndrome?
45,X
Increased carrying angle, low hairline, wide spaced nipples, sandle gap, short stature & lymphoedema
Coarcted Aorta
Hypothyroid
UTIs
Osteoporosis
HTN
Primary Amenorrhoea & Infertility
Can you do anything to treat Turner’s Syndrome?
Hormonal Therapy can help with some of the symptoms
What are the dysmorphic features of Down’s Syndrome?
Low Set ears Upslanted Palpebral fissures Epicanthic folds Single palmar crease Sandle Gap Flat facial profile Large fontanelle
What conditions are you more likely to develop with Down’s Syndrome?
AML Hypothyroidism Early onset Alzheimer's Coeliac Infections
What congenital defects are you born with in Trisomy 21?
AVSD
~Duodenal Atresia
Summary of Down’s Presntation?
Low ears, upward slanted palpebral fissures, epicanthic folds, single palmar crease, wide sandle gap, flat face and lage fontanelle
Babies = Hypotonia
Congenital = AVSD & Duodenal Atresia
LDs
Predisposed to: AML, hypothyroid, early alzheimers, coeliac and infection
How do we screen for Trisomy 21 in-utero?
US for Fetal Nuchal Translucency
Beta-HCG & PAPP-A
If risk >1in150:
- Chorionic Villus Sampling (10-14wks)
- Amniocentesis (>15wks)
Some genetic features are known to be associated together, What is the VATER association?
- Vertebral & VSD
- Anorectal Atresia
- Tracheo-
- Esophageal Fistula
- Radial Anomalies
What types of testing can be done for genetic disorders?
REcognise the patterns
Biochemical, chromosome structure and microarray tests
Targeted testing
Exome/genome testing
What would you test for when assessing LDs?
- Microarray
- Fragile X
- Targeted tests
- Exome/Genome analysis
What are the features of 22q11 deletion syndrome?
CATCH 22:
- Cardiac (Tetralogy or truncus arteriosus)
- Abnormal Facies
- Thymic Hypoplasia
- Cleft Palate
- Hypocalcaemia