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microdeletion syndromes Flashcards

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1
Q

3 clinical features associated with 16p11.2 deletion syndrome

A

macrocephaly, developmental delay, ASD, siezures (20%)

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2
Q

3 clinical features of Angelmans syndrome

A

Severe mental retardation or developmental delay
Absent speech
Happy smiling disposition with inappropriate laughter
Ataxic gait with flapping upheld arms (originally known as the “happy puppet” syndrome)
Microcephaly, large wide open mouth, prominent chin, deep set eyes & protruding tongue, tongue thrusting, drooling and mouthing
Love of water
Hypopigmentation
Hypo- and and hypertonia are also seen
Early onset epileptic seizures

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3
Q

gene location of PWS/AS

A

15q11.-q13

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4
Q

clinical features of PWS

A

Disorder of growth and development
Severe neonatal hypotonia (“floppy” baby) & feeding difficulties and/or failure to thrive in infancy
Hyperphagia resulting in obesity (diabetes & cardiac failure) in later infancy/early childhood
Mild-moderate MR, developmental delay & behavioural disorders (stubbornness, temper tantrums, poor peer interactions, unusual skill with jigsaw puzzles)
Characteristic facial features: almond-shaped eyes, low set ears, down-turned mouth, bilateral epicanthal folds
Short stature, small hands and feet
Hypogonadism in both males & females
Hypopigmentation
Skin picking

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5
Q

Features of 1p36 deletion syndrome

A

DD, dysmorphic, hypotonia, NO speech, behaviour probe-biting,tantrums, increase risk neural crest tumours, late Fontanelle closure

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6
Q

% 1p36 deletion syndrome that is inherited from balanced parental rea

A

20%

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7
Q

What locus does TAR map to?

A

1q21

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8
Q

How does TAR arise?

A

LCRs blocks X 4. Class 1: distal smaller and class 2: larger TAR and distal region

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9
Q

What syndromes are located at 1q21

A

TAR- proximal, distal 1q21 deletion, 1q21 duplication

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10
Q

Features of 1q21 dup syndrome

A

Macrocephaly, TOF incomplete penetrance

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11
Q

Candidate gene for head size in 1q21

A

HYDIN2. Del:small and dup:large

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12
Q

Phenotype of TAR

A

Absent radii WITH thumbs, cows milk intolerance, MDT

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13
Q

Genetics of TAR

A

Common 200kb deletion, 11genes, proposed 2nd hit required?

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14
Q

Where is mowat Wilson syndrome

A

2q22 deleted

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15
Q

Phenotype of mowat Wilson

A

Dysmorphic-open mouth, pointy chin, heart abns, aGenesis corpus callosum, Genito urinary problem

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16
Q

Mowat Wilson candidate gene

A

ZEB2. Mutations and deletions,2% gene disruption due to Chr rea. Most de novo

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17
Q

Where is Albright like syndrome located and what causes it (del/dup)?

A

2q37 (deletion)

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18
Q

Albright like syndrome candidate gene

A

Hdac4

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19
Q

Phenotype of Albright like syndrome

A

DD, autism,behavioural, dysmorphic, skeletal abns,GR. Phenotype variable and not correlate with deletion size

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20
Q

Features of 2q37 duplication

A

No dysmorphism and normal IQ

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21
Q

Genetics of ALports syndrome (hereditary nephritis)

A

X linked col4a5 mutation, or autosomal recessive col4a3 and col4a4 mutations (Chr 2). Genes involved in collagen biosynthesis

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22
Q

Phenotype of alports

A

Kidney disease, hearing loss, eyes-cataracts, bloody urine and protein in urine.

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23
Q

What does VHL stand for?

A

Von hippel lindau

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24
Q

Locus for VHL

A

3p25-26

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25
Q

Origins of WHS

A

90% are de novo. Deletions 55%, unbalced translocation 40-45%, complex rea in few. Can be Inherited from female carriers of t(4;8)(p16.3;p23). Others male derived.

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26
Q

Phenotype of WHS

A

Dysmorphism Greek warrior helmet, GR, seizures, MR, psychomotor delay

27
Q

Is there a correlation of deletion size and phenotype severity

A

Increase size usually = increased severity. Arrays have identified more due to cryptic unbalanced reas which may explain variability south et al 2008

28
Q

Genes in WHSCR and phenotype links

A

Whsc1 (face, GR)and letm (seizures)

29
Q

Incidence of cri du chat

A

1/50,000

30
Q

Where is cri du chat critical region

A

5p15.3 -15.2

31
Q

What micro deletion is at 7q11.23

A

Williams

32
Q

Incidence of Willian’s syndrome

A

1/10,000

33
Q

Key gene in ws deletions

A

Eln - elastin

34
Q

Where is SOTOS (cerebral gigantism)

A

5q35

35
Q

Inheritance pattern of SOTOS

A

Autosomal dominant

36
Q

Genetic abnormalities seen in SOTOS

A

95% de novo. Mainly mutations but is a recurrent Japanese 1.9Mb deletion.

37
Q

Phenotype of SOTOS

A

Excessive growth up to age 3, macro exhale large hands and feet, increased bone age, mild-severe LD, cranial abns, large long skull, high bossed forehead

38
Q

Where is the Twist gene and what is associated syndrome

A

7p21.1 involved in saethre chotzen syndrome. Point mutations or deletions seen- inc penetrance

39
Q

Phenotype saethre chotzen syndrome

A

Skull defect prem fusion of cranial bones which prevents normal growth and results in odd shape/asymmetric skull, normal IQ

40
Q

Where is shfm ectrodactyly locus

A

7q21.3

41
Q

Where is shh gene located and what do defects in it cause

A

7q36, holoprosencephaly

42
Q

Where are OR gene clusters

A

8p23.1

43
Q

Why is there such a high incidence of OR reas?

A

Repd (distal rpt) and repp (prox repeat) flank 5Mb region

44
Q

Which genes associated with langer Gideon

A

Trsp1 and ext1 (multiple exotoses type1)

45
Q

CDC phenotype

A

Cat cry microcephaoy seizure severe mr fertile hypotonia

46
Q

Where is region deleted in Alfi’s syndrome

A

9p22.3

47
Q

Phenotype of Alfi’s syndrome

A

Trigonocephaly, severe speech probs, mr, abn genitalia dysmorphic

48
Q

Where is DGS-2

A

10p13

49
Q

Phenotype of DGS-2

A

More severe than DGS. Hypoglycaemia, absent thymus-> T cell deficit, heart, ,male abn genitalia, mr, dysmorphism

50
Q

Percentages of different types I

Of patau syndrome

A

75%: NDJ. Most mat meiosis 1 or mitotic. 20% unbalanced rob. 5% mosaic

51
Q

Phenotype 13q14 deletion syndrome

A

Depends on size. Retinoblastoma, DD, speech language delay, dysmorphic

52
Q

What is wang syndrome

A

Upd14 pat. More severe than mat upd14. Dysmorphic, mr, abdominal wall defect

53
Q

Where is rubenstein taybi locus and associated gene

A

16p13.3. CREBBP

54
Q

R-T phenotype

A

Generalised disregulation of gene expression of CREBBP causes multiple abns. Short, mr, dysmorphic, broad thumb/big toe, increased cancer risk

55
Q

Miller dieker locus

A

17p13.3

56
Q

SMS locus

A

17p11.2

57
Q

Duplication of 17p11.2

A

Potaki-lupski. ID by aCGH in 2008

58
Q

Phenotype potaki-lupski

A

DD, autism, FTT

59
Q

Cyto abnormality seen in Emmanuel syndrome

A

Der(22)t(11;22)(q23.3:q11.2)

60
Q

Phenotype of CAt eye syndrome

A

Ocular Coloboma, anal abns, septal heart defects, dysmorphism,skin tags. No obvious differences between types 1 and 2

61
Q

Region associated with phelan-mcdermid syndrome

A

22q13 deletion

62
Q

Which are the 2 most common terminal micro deletions?

A

1p36 and then 22q13

63
Q

Phenotype of 22q13 deletion

A

Dysmorphic, DD.speech delay, hypotonia

genetics (20 decks)

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