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RACP exam study > Genetics - general/chromosomal > Flashcards

Genetics - general/chromosomal Flashcards

1
Q

Choose the most appropriate diagnosis from the following options:
* Porphyria
* Farber disease
* Hunter syndrome
* Prolidase syndrome
* Hartnup disease
* Phenylketonuria
* Hurler syndrome
* Fabry disease

A child with a hoarse voice has swollen and painful joints. There are lipogranulomas under the skin.

A

Correct answer:Farber disease - ASAH1 gene
Explanation:
This is a classic description of Farber Disease, also known as Farber’s lipogranulomatosis (hoarse or weak cry, lipogranulomas and swollen, painful joints). Children may also have hepatosplenomegaly and developmental delay. Farber disease is a rare autosomal recessive condition caused by abnormal lipid metabolism. Lipids accumulate abnormally throughout the body, especially around the joints. Fabry Disease is a rare disorder that presents with neuropathic or limb pain with telangiectasias and angiokeratomas (usually affecting the groin and lower abdomen).

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2
Q

Choose the most appropriate diagnosis from the following options:
* Porphyria
* Farber disease
* Hunter syndrome
* Prolidase syndrome
* Hartnup disease
* Phenylketonuria
* Hurler syndrome
* Fabry disease

A child with a known diagnosis of mucopolysaccharidosis is noted to have melanocytic naevi.

A

Correct answer:Hurler syndrome - IUDA gene on chr4
Explanation:
Hurler syndrome (MPS I) is associated with melanocytic naevi. Melanocytic naevi are also associated with GM1 gangliosidosis type 1 but most commonly, melanocytic naevi occur in otherwise well children. Hunter syndrome (MPS II) is associated with the development of pearly papules.

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3
Q

Choose the most appropriate diagnosis from the following options:
* Porphyria
* Farber disease
* Hunter syndrome
* Prolidase syndrome
* Hartnup disease
* Phenylketonuria
* Hurler syndrome
* Fabry disease

A child with a known diagnosis of mucopolysaccharidosis is noted to have pearly papules.

A

Correct answer:Hunter syndrome - IDS gene
Explanation:
Hunter syndrome (MPS II) is associated with the development of pearly papules. Hurler syndrome (MPS I) is associated with melanocytic naevi. Melanocytic naevi are also associated with GM1 gangliosidosis type 1 but most commonly, melanocytic naevi occur in otherwise well children.

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4
Q

Choose the most appropriate diagnosis from the following options:
* Porphyria
* Farber disease
* Hunter syndrome
* Prolidase syndrome
* Hartnup disease
* Phenylketonuria
* Hurler syndrome
* Fabry disease

A child is poorly compliant with dietary treatment and presents with developmental delay, hypopigmentation and eczema.

A

Correct answer:Phenylketonuria - PAH gene
Explanation:
The textbook image of phenylketonuria is a blonde child with blue eyes, however children with classic PKU tend to just have lighter skin and hair than unaffected family members. They are also at increased risk of eczema, especially if not compliant with phenylalanine reduced diet

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5
Q

Gene associated with: CF

A

Autosomal recessive Cystic fibrosis conductance transmembrane regulator(CFTR); prevalence 1/2500

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6
Q

Gene associated with: sickle cell anaemia

A

Autosomal recessive Beta hemoglobin(HBB)

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7
Q

Gene associated with: albinism, oculocutaneous, type 2

A

Autosomal recessive Oculocutaneous albinism II(OCA2)

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8
Q

Gene associated with: Huntington’s disease

A

Autosomal dominant Huntingtin (HTT)

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9
Q

Gene associated with: myotonic dystrophy type 1

A

Autosomal dominant Dystrophia myotonica-protein kinase(DMPK)

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10
Q

Gene associated with: hypercholesterolaemia AD type B

A

Autosomal dominant Low-density lipoprotein receptor(LDLR);apolipoprotein B(APOB)

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11
Q

Gene associated with: NF type 1

A

Autosomal dominant Neurofibromin 1(NF1)

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12
Q

Gene associated with: NF type 2

A

Neurofibromin 2 (NF2)

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13
Q

Gene associated with: PKD type 1

A

Autosomal dominant Polycystic kidney disease 1(PKD1)

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14
Q

Gene associated with: PKD type 2

A

Autosomal dominant Polycystic kidney disease 2(PKD2)

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15
Q

Gene associated with: haemophilia A

A

X-linked recessive Coagulation factor VIII(F8)

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16
Q

Gene associated with: muscular dystrophy (Duchenne)

A

X-linked recessive Dystrophin(DMD)

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17
Q

Gene associated with: muscular dystrophy (Becker)

A
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18
Q

Gene associated with: Rett’s syndrome

A

X-linked dominant Methyl-CpG-bindingprotein2(MECP2)

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19
Q

Gene associated with: hypophosphatemic rickets, X linked dominant

A

X-linked dominant Phosphate-regulating endopeptidase homologue, X-linked(PHEX)

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20
Q

Gene associated with: Spermatogenic failure, non obstructive, Y linked

A

Y-linked Ubiquitin-specific peptidase 9Y, Y-linked(USP9Y)

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21
Q

Fragile X syndrome

A

X linked, trinucleotide repeat expansion, FMR1 gene

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22
Q

Friedreich’s ataxia

A

FRDA gene, trinucleotide repeat expansion disorder

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23
Q

spinocerebellar ataxia

A

SCA1, SCA 2, SCA3, ATXN1 genes; trinucleotide repeat expansion

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24
Q

Patau - genetics, prevalence, associations, prognosis

A

T13, 1/5000 liveborns, midline defects and normally grown (unlike Edwards); Median survival 10 days, 80% die by 3 months, 92% die by 1 year, Profound intellectual disability in survivors

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25
Q

Edward - genetics, prevalence, associations, prognosis

A

T18; 1/5500, relationship with AMA and 3:1 F:M; IUGR, horseshoe kidney, rocker bottom feet, fisted fingers, hypertonic, cardiac (>50%), GIT (>75%); Death within first 2 weeks = 50%, 3 months 80%, 12 months 90%

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26
Q

Down - genetics, prevalence, associations

A

T21; 1/800, relationship with AMA, trisomy then translocation then mosaic; cardiac 50% (AVSD), hypotonia, poor moro, OA axial instability, transient leukaemia/AMKL, AML, duodenal atresia (12%)

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27
Q

Klinefelter - genetics, prevalence, associations, prognosis

A

47 XXY, 1/600 males, normal phenotype and go unrecognized for life OR learning difficulty in childhood OR delayed puberty at adolescence OR infertility as adult; primary hypogonadism, gynaecomastia, small testes, low libido, normal intelligence but reduce IQ behavioural phenotype, 55% MV prolapse, tall stature w long legs and long arms, eunuchoid body habitus; Increased morbidity in later life from pulmonary diseases, cancers (including breast), diabetes, SLE (extra X chromosome)

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28
Q

Turner - genetics, prevalence, associations, prognosis

A

45 XO; 1/5000 (most spont abort), monosomy (45%) or mosaicism (50%); Short stature (95-100%) Growth failure (90-95%) Infertility (95%) Ovarian failure (90%) Increased upper: lower segment (>90%) Defective dental development (75%) Recurrent otitis media (50-70%) SNHL (50% by adulthood) Cardiac malformations - long transverse aortic arch, aortic root dilatation, bicuspid aortic valve, coarctation (50%); Often in neonatal period presents with oedema of hands/feet, resolves by 2 years but an recur at any age; 7. Complications: ↑ risk of autoimmune problems (hypothyroidism, coeliac disease), risk of aortic dissection

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29
Q

Isochromosome X

A

Isochromosome for the long arm of the X chromosome (isoXq) = the short arm (p) is deleted and replaced with an exact copy of the long arm (q). One of the most common structural sex chromosome abnormalities. Not associated with increased paternal age

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30
Q

Jacobs syndrome

A

47 XYY, 1/1000; Tall stature, mild delay in motor and language, normal puberty + fertility. NO increase in aggression

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31
Q

Metafemale syndrome

A

47 XXX; Most common sex chromosome abnormality in females; Usually incidental diagnosis; May have slightly lower IQ 15-30 than siblings

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32
Q

48 XXYY

A
  • Tall with adult height >6 feet
  • Eunuchoid habitus – long legs, sparse body hair
  • Small testicles and penis
  • Hypergonadotropic hypogonadism + gynaecomastia
  • IQ 60-80 – delayed speech
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33
Q

48 XXXY

A
  • Average or tall stature
  • Ocular hypertelorism, flat nasal bridge, radioulnar synostosis, fifth-finger clinodactyly
  • Small penis and testicles
  • IQ 40-60 – severely delayed speech
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34
Q

49 XXXXY

A
  • Microcephaly with short stature
  • Ocular hypertelorism, flat nasal bridge, Upslanting palpebral fissures
  • Bifid uvula, clef palate, heart defect (PDA), radioulnar synostosis, genu valgum, pes cavus, fifth finger clinodactyly, hypotonia with lax joints
  • Small genitalia
  • Hypergonadotropic hypogonadism
35
Q

Pentasomy X

A

49 XXXXX
* ID – always present
* Craniofacial, cardiovascular and skeletal abnormalities

36
Q

45X/46 XX mosaicism

A
  • Most common sex chromosome mosaicism diagnosed by amniocentesis + prenatal karyotype
  • Mild clinical features of Turner syndrome
  • Many women undergo spontaneous puberty and are fertile
37
Q

45X/46XY mosaicism

A
  • Wide phenotypic spectrum
  • Phenotypic females with typical or atypical Turner syndrome
  • Ambiguous external genitalia + asymmetrical gonads (ie. mixed gonadal dysgenesis)
  • Male phenotype with incomplete masculinisation
38
Q

Marfan syndrome

39
Q

Wilsons

40
Q

Tuberous sclerosis

A

TSC1 and TSC2 (more common)

41
Q

Anti-a-trypsin

42
Q

Alagille

A

JAG1, NOTCH2

43
Q

Peutz Jeugher

44
Q

Hirschsprungs

45
Q

Dravet

46
Q

Hereditary pancreatitis

A

PRSS and SPINK1

47
Q

CCHS

48
Q

Albright hereditary osteodystrophy

49
Q

Turner

50
Q

X-linked dominant disorder incontinentia pigmenti

51
Q

APS1/APCED

52
Q

Trisomy 21 AML

A

GATA-1 mutation

53
Q

Leukaemia

54
Q

Fanconi anaemia

A

FANCA-FANCW

55
Q

mTOR pathway mutation epilepsy (FFEVF)

56
Q

Severe viral illness following vaccination

57
Q

Chronic granulomatous disease

A

CYBB, X-linked

58
Q

SCID

59
Q

Turner short stature gene

A

Short Stature Homeobox (SHOX) insufficiency

60
Q

Normal height velocity

A

2-4 yo = < 5.5cm/yr
4-6 yo = < 5cm/yr
6yo-puberty = < 4cm/yr for boys + < 4.5cm/yr for girls
Puberty = 9.5cm for boys, 8.5cm for girls

(a. 2-4 years = HV >9 cm/year
b. 4-6 years = HV >8.5 cm/year
c. 6 years – puberty
i. Boys HV > 6 cm/year
ii. Girls HV > 6.5 cm/year) - this is >95th centile

61
Q

GH deficiency

A

GH1 (chr 17)
Respond well to recombinant GH

62
Q

GH insensitivity

A

GHRH (release hormone receptor) mutation
- type 1: AR, no response to stimulation
- type 2: AD
- type 3: x linked +n hypogammaglobulinaemia

63
Q

GH insensitvity

A

GHR (receptor) mutation (Laron syndrome)

64
Q

Early onset obesity

65
Q

Genetic causes of craniosynostosis

A

i. Crouzon/ Apert/ Carpenter/ Chotzen/ Pfeiffer

66
Q

Crouzen

A

FGFR2
AD but linked with advanced paternal age
Brachycephaly, midface hypoplasia, proptosis, hydrocephalus, optic atrophy

67
Q

Apert

A

FGFR2, AD
Brachycephaly/plagiocephaly (coronal) - coronal, sagittal and lambdoid sutures
Midface hypoplasia, exopthalmos, symmetrical syndactyly, hydrocephalus, ID

68
Q

Pfeiffer

A

FGFR2 but can be FGFR1, AD
Skull deformity (scaphocephaly + brachiocephaly), midface hypoplasia,
Hypertelorism, prominent eyes, mild exophthalmos, small nose
Partial syndactyly – webbing fingers/toes, deviated broad and short thumb/big toe
3 types
Type 1: mildest, normal IQ
Type 2: clover leaf skull (Kleeblattschadel), severe proptosis
Type 3: as for type 2 without cloverleaf skull

69
Q

Carpenter

A

FGFR2, AR
Cloverlead/turricephaly, prominent metopic ridge, midface hypoplasia
Polydactyly and syndactyly

70
Q

OCD

71
Q

IPEX

72
Q

Juvenile neuronal ceroid lipofuscinosis

73
Q

Ewings

A

t(11:22) EWSR1:FLI1

74
Q

Alveolar rhabdomyosarcoma

A

t(1;13) or t(2;13), PAX-FKHR

75
Q

Neublastoma

A

MYCN amplification = poor prognosis
PHOX2 = breathing problem, constipation

76
Q

Retinoblastoma

A

RB1, 2 hit theory

77
Q

Rhabdoid brain/kidney (ATRT)

A

SMARCB1 = loss of INI1, germlin 35%, poor prognosis

78
Q

Li Fraumeni

A

TP53, germline

79
Q

t(8;14)

A

Burkitts or B-ALL

80
Q

22q12 EWSR1 - not always Ewings

A

Can be other sarcomas

81
Q

Paediatric small round blue cell (solid) tumours

A

Ewings, neuroblastoma, rhabdomyosarcoma, medulloblastoma, Wilms, retinoblastoma, anaplastic hepatoblastic
- can invade marrow and cause BM failure

82
Q

Hypotonia, SOB, FTT, macroglossia, cardiomegaly - what disease and test

A

Pompes disease - alpha glucosidase enzyme
glycogen storage disease type 2

83
Q

Smith-Lemli-Opitz syndrome

A

D HCR7 mutation

RACP exam study (11 decks)

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