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FOP/TAS > Genetic Syndromes > Flashcards

Genetic Syndromes Flashcards

1
Q

47, XXY

A

Klinefelter Syndrome

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2
Q

45, X

A

Turner’s Syndrome

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3
Q

Results from mutations in Fibrillin 1 (FBN1)

A

Marfan Syndrome

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4
Q

Autosomal dominant mutation in FGFR3 Fibroblasy growth factor receptor 3

A

Achondroplasia

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5
Q

Learning disability, macro-orchidism, autism, seizures

A

Fragile X syndrome

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6
Q

Trisomy 21

A

Down’s syndrome

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7
Q

Trisomy 18

A

Edwards Syndrome

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8
Q

Trisomy 13

A

Patau Syndrome

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9
Q

Short stature, flare face/brachycephaly (short skull from ant to post), flat nasal bridge, developmental delay, third fontanelle, hypotonia - protruding tongue, upward slanted palpebral fissures, small ears, simian crease, joint hyperflexibility, short neck, sandal sign

A

Down’s Syndrome

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10
Q

Associated with AVSD

A

Downs Syndrome

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11
Q

Associated with duodenal atresia and Hirschprung

A

Downs

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12
Q

Ncreased nuchal transleucy at 12 week dating scan

A

Downs

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13
Q

Ass with Hirschprung disease

A

Down syndrome

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14
Q

Ass with atlantoaxial subluxation

A

Down’s syndrome

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15
Q

Affect midline structures of the face - scalp defects, cleft lip, microcephalic, cyclopia, polydactyl, holoproencephaly

A

Patau’s (Trisomy 13)

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16
Q

Microcephalic, rockerbottom feet, omphalocele, micrognatia, hypertelorism (wide set eyes) , upturned nose, clenched fists, hypertonic

A

Edwards syndrome

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17
Q

22q11 microdeletion

A

DiGeorge Syndrome

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18
Q

Autosomal dominant CHD7 mutation

A

CHARGE syndrome

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19
Q

Hypotonia, hyperphagia, obesity, hypogonadism

A

Prader Willi

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20
Q

Horseshoe kidney

A

Turners (and Edwards)

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21
Q

Coloboma

A

CHARGE, treacher Collins, patau

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22
Q

Athymia

A

Di George

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23
Q

Cherry red spot

A

Metabolic storage diseases - Tay Sachs, Nieman Pick

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24
Q

Tubular nose

A

Di George syndrome

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25
Q

7q11.23 microdeletion

A

Williams syndrome

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26
Q

Macrosomia, macroglossia, hermihypertrophy, exomphalos, hypoglycaemia, linear ear groove, Wilm’s tumour

A

Beckwith Wiedemann

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27
Q

Agenesis of corpus callosum, severe developmental delay, seizures, lacunae of retina

A

Aicardi syndrome

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28
Q

Macrocephaly, developmental delay, skin papillomas, facial tichilemmomas, increased risk of thyroid/breast/endometrial tumours

A

Cowden syndrome

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29
Q

Macrocephaly, learning difficulties, macrorchidism, high arch palate, large jaw, joint hyperextensibility,

A

Fragile x

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30
Q

Friendly personality, upturned nose, full lips, stellate iris, Supervalavar aortic stenosis, hypercalcaemia, hypertension

A

Williams syndrome

31
Q

Fair hair and eyes, seizures, happy with bursts of laughter, coarse facies, hypotonic gait,

A

Angelman syndrome

32
Q

Generalised oedema and cystic hygroma in utero, oedema and hypoplastic nails at birth

A

Turners syndrome

33
Q

Short, coarctation of aorta, shield shaped chest, webbed neck, low hairline, primary amenorrhea streak gonads, horseshoe kidney

A

Turners

34
Q

Male, normal intelligence, tall, long arms, gynaecomastia, hypogonadism

A

Klinefelters

35
Q

TOF, cholestasis, butterfly vertebrae, eye abnormalities

A

Alagille syndrome

36
Q

Haematuria, deafness

A

Alport syndrome

37
Q

Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes

A

MELAS

38
Q

Risk of Down syndrome recurrence with 14q21q translocation

A

10-15%

39
Q

Risk of Down syndrome recurrence with 21q21q translocation

A

100%

40
Q

Hypotonia, clinodactyly, single palmer crease, sandal gap in toes, upstanding palpebral fissures,

A

Downs

41
Q

Brushfield spots at eye exam

A

Downs

42
Q

Short, bleeding disorder, pulmonary stenosis murmur, webbed neck

A

Noonan’s

43
Q

Aniridia, Wilm’s tumour

A

WAGR - Wilm’s, Aniridia, Genitourinary abnormality, Retardation

44
Q

CATCH 22

A 
CHD - TOF, truncus arteriosus, interrupted aortic arch
A - abnormal facies
T- thymus absent / immunodeficiency 
C - cleft palate
H - hypocalcaemia/ hypo parathyroidism
22
45
Q

5p deletion

A

Cri du Chat

46
Q

Macrocephaly, short stature, short limbs, trident hand

A

Achondroplasia (short limb dwarfism)

47
Q

Indications for GH therapy

A
  • Growth hormone deficiency (GHD), including acquired GH deficiency as the result of brain tumours, cranial irradiation or other brain injury, defined as a peak growth hormone of less than 6.7micrograms/L on two stimulation tests
  • Turner syndrome (TS)
  • Prader-Willi syndrome
  • Chronic renal insufficiency (CRI)
  • Children born small for gestational age (SGA) with subsequent growth failure at 4 years of age or later
  • Short stature homeobox-containing gene (SHOX) deficiency
48
Q

Lens dislocation, chest deformity, joint laxity, aortic dissection

A

Marfan s syndrome

49
Q

Auto dominant, skin hyperextensibility, kyposcoliosis, aortic root dilation, frequent skin lacerations and scarring

A

Ehlers danlos

50
Q

Multiple fractures, blue sclera, hearing loss

A

Osteogenesis imperfecta

51
Q

COL1A1 and COL1A2 gene mutations

A

Osteogenesis imperfecta

52
Q

Decreased cervical motion, short webbed neck , low hair line

A

Klipple feil syndrome

53
Q

External auditory canal stenosis/ ear abnormalies - conductive hearing loss , downward slating palpebral fissures, coloboma, mandible/zygoma underdevelopment , cleft palate

A

Treacher collins
Autosomal dominant - failure of migration of neural crest cells to 1st and 2nd pharyngeal arches required for craniofacial development

54
Q

Sensorineural hearing loss, white forelock, abnormal pigmentation of iris

A

Waarenburg syndrome - autosomal dominant

55
Q

Profound sensorineural deafness, vestibular dysfunction, goitre

A

Pendred syndrome (Dx: bilateral dilation of vestibular aqueducts at MRI)

56
Q

Bilateral vestibular schwanomma

A

NF2

57
Q

microcephaly, failure to thrive, short stature, premature aging, severe photosensitivity, occular - cataracts, optic atrophy

A

Cockayne syndrome

58
Q

Synophry (mono brow) / bushy eyebrows, short stature, intellectual disability

A

Cornelia de Lange syndrome

59
Q

Learning difficulties, broad thumbs, clinodactyly of 5th finger, microcephaly, short stature,

A

Rubinstein taybi syndrome

60
Q

Learning difficulties, obesity, hypothalamic abnormalities - central diabetes insipidus, brightness - retinitis pigmentosa,

A

Laurence-Moon- Biedl Syndrome

61
Q

Short stature, obesity shortened 4th and 5th metacarpals, subcutaneous plaque, hypocalcaemia

A

Albright hereditary osteodystrophy

62
Q

Girl with initially normal development, then regression, secondary microcephaly, wringing midline movements,

A

Ret syndrome

63
Q

Low serum/amniotic alpha feto protein in pregnancy

A

Trisomies, turners

64
Q

Elevated alpha feto protein

A

Risk of spina bifida, omphalocele/gastroscesis

65
Q

Dysmorphia, cleft palate, eye problems, early onset arthritis

A

Stickler syndrome

66
Q

Autosomal recessive, isolated motor developmental delay, absent deep tendon reflexes, lower motor neurone pathology on EMG

A

Spinal muscular atrophy

67
Q

Lisch nodules on iris and optic glioma

A

Neurofibromatosis

68
Q

Posterior embryotoxon at eye exam

A

Alagille syndrome

69
Q

Cleft palate, depressed nasal bridge, hypertelorism, short nails, hypoplasia of nails, hirsutism, mum with epilepsy

A

Maternal phenytoin use (fetal hydrantoin syndrome)

70
Q

Flat nasal bridge, smooth long philtrum, thin vermillion border, low set ears, spina bifida, intellectual disability, cleft palate, congenital heart defects, mother on antiepileptics

A

Maternal sodium valproate use

71
Q

Female baby with an unguinal hernia

A

Consider complete androgen insensitivity syndrome (AIS), 46xy

72
Q

Retinal hamartoma and retinal hypo pigmented patched

A

Tuberous sclerosis

73
Q

Exocrine pancreatic deficiency, severe eczema, pancytopenia p, skeletal dysplasia, short stature

A

Schwannman Diamond

FOP/TAS (9 decks)

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