Genetic disordrs Flashcards

1
Q

What causes turner’s syndrome?

A

Missing an X chromosome aka 45 X

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2
Q

What are the dysmorphic features of Turner’s Syndrome?

A
  • Increased carrying angle
  • Low Hairline
  • Wide spaced nipples
  • Sandle Gap
  • Short Stature
  • Lymphoedema
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3
Q

What congenital cardiac disease is often associated with Turner’s Syndrome?

A

Coarctation of the Aorta

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4
Q

What conditions does Turner’s predispose you to?

A

Hypothyroid
UTI
Osteoporosis
HTN

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5
Q

Summary of Turner’s Syndrome?

A

45,X

Increased carrying angle, low hairline, wide spaced nipples, sandle gap, short stature & lymphoedema

Coarcted Aorta

Hypothyroid
UTIs
Osteoporosis
HTN

Primary Amenorrhoea & Infertility

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6
Q

Can you do anything to treat Turner’s Syndrome?

A

Hormonal Therapy can help with some of the symptoms

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7
Q

What are the dysmorphic features of Down’s Syndrome?

A
Low Set ears
Upslanted Palpebral fissures
Epicanthic folds
Single palmar crease
Sandle Gap
Flat facial profile
Large fontanelle
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8
Q

What conditions are you more likely to develop with Down’s Syndrome?

A
AML
Hypothyroidism
Early onset Alzheimer's
Coeliac
Infections
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9
Q

What congenital defects are you born with in Trisomy 21?

A

AVSD

~Duodenal Atresia

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10
Q

Summary of Down’s Presntation?

A

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

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11
Q

How do we screen for Trisomy 21 in-utero?

A

US for Fetal Nuchal Translucency

Beta-HCG & PAPP-A

If risk >1in150:

  • Chorionic Villus Sampling (10-14wks)
  • Amniocentesis (>15wks)
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12
Q

Some genetic features are known to be associated together, What is the VATER association?

A
  • Vertebral & VSD
  • Anorectal Atresia
  • Tracheo-
  • Esophageal Fistula
  • Radial Anomalies
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13
Q

What types of testing can be done for genetic disorders?

A

REcognise the patterns
Biochemical, chromosome structure and microarray tests

Targeted testing

Exome/genome testing

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14
Q

What would you test for when assessing LDs?

A
  • Microarray
  • Fragile X
  • Targeted tests
  • Exome/Genome analysis
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15
Q

What are the features of 22q11 deletion syndrome?

A

CATCH 22:

  • Cardiac (Tetralogy or truncus arteriosus)
  • Abnormal Facies
  • Thymic Hypoplasia
  • Cleft Palate
  • Hypocalcaemia
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