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Clinical Cytogenetics and Molecular Genetics > Microdeletions, Microduplications and Contiguous Gene Disorders > Flashcards

Microdeletions, Microduplications and Contiguous Gene Disorders Flashcards

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1
Q

________ ________ __________ is a small segment of extra or missing DNA

A

copy number variation (CNV)

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2
Q

_________ is 0 or 1 copy of the region

A

deletion (loss)

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3
Q

__________ is 3 or more copies of the region

A

duplication (gain)

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4
Q

_________ deletions/duplications are 3-5 Mb and can be seen on a karyotype

A

classic

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5
Q

___________ are smaller than 3 Mb and can be detected by FISH, CMA etc

A

microdeletions

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6
Q

___________ is when one copy of the gene is not sufficient

A

haploinsufficiency

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7
Q

_________________ is when three copies of the gene is too much

A

triplosensitivity

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8
Q

Are deletions or duplications more likely to be pathogenic?

A

deletions

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9
Q

___________/_________________ _____________ are disorders due to the deletion or duplication of two or more genes located in proximity to each other

A

Microdeletion/duplication syndromes

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10
Q

_____________(acronym) causes 10-22% of structural rearrangements
Interchromosomal – between homologs
Intrachromosomal – between sister chromatids
Intrachromatid – within the same chromosome

A

NAHR- non-allelic homologous recombination
- repetitive sequences

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11
Q

________________________ structural rearrangements between homologs

A

interchromosomal

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12
Q

________________________ structural rearrangements between sister chromatids

A

intrachromosomal

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13
Q

________________________ structural rearrangements within the same chromosome

A

intrachromatid

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14
Q

Microdeletion/microduplication syndrome phenotype?

A

Developmental Delay
Intellectual Disability
Dysmorphism
Organ malformation

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15
Q

Two examples of microdeletion syndrome?

A

RBM8A and TAR (thrombocytopenia absent radii syndrome)
Biotinidase deficiency

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16
Q

Inheritance pattern of microdeletion syndrome?

A

De novo or autosomal dominant - 22q microdeletion syndrome

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17
Q

4p deletion syndrome

A

Wolf-Hirschhorn syndrome

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18
Q

5p deletion syndrome

A

Cri du Chat syndrome

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19
Q

10p13 deletion syndrome

A

DiGeorge II syndrome

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19
Q

7q11.2 deletion syndrome

A

Williams (Williams-Beuren) syndrome

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20
Q

15q11-q13 deletion syndromes

A

PWS/Angelman

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20
Q

16p13.3 deletion

A

Rubinstein Taybi syndrome (CBP - creb binding protein)
#1 cause of autism spectrum disorder

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21
Q

17p11.2 deletion

A

Smith Magenis syndrome

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22
Q

17p11.2 duplication

A

Potocki/Lupski syndrome

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23
Q

22q11.2-q11.23 deletion or duplication?

A

22q11.2-q11.23 deletion or duplication syndrome

24
Q

Most common microdeletion syndrome?

A

22q11.2 syndrome

25
Q

Four genes in 22q11.2 region of deletion

A

TBX1 – implicated in cardiac- VSD, Tetralogy of Fallot, Aortic arch anomalies, palate defects
COMT – evidence that may be critical gene w/ regard to the psychiatric problems
SNAP29 – implicated in cutaneous and other atypical findings seen in some individuals w/ deletion&raquo_space; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
PROHD&raquo_space; risk psychiatric illness Jacquet 2002 PMID 12217952

26
Q

22q11.2 inheritance

A

93% de novo
7% familial

27
Q

3 main disorders of infancy with heart defects

A
  1. Aneuploidy
  2. Noonan syndrome
  3. 22q11.2 deletion syndrome
28
Q

22q11.2 deletion phenotype faces?

A

Eye structures
Epicanthal folds
Hooded eyelids
Dark/red under-eyes (suborbital congestion)
Nose structure
Broad nasal bridge
Tubular nose shape
Bulbous nasal tip
Nostril sidewalls underdeveloped (hypoplastic alae nasi)
Ear Structure
Small or protuberant ears
Thick/overfolded helix
Low-set, posterior rotated
Preauricular pits/tags
Boney structures
Micrognathia
Malar flattening (underdeveloped cheekbones)
Small Teeth
Other
Asymmetrical crying face
Downturned mouth

29
Q

22q11.2 deletion critical gene responsible for congenital heart disease (VSD, TOF), abnormal facies, thymic aplasia and hypocalcemia?

A

T-box 1 (TBX1)

30
Q

22q11.2 deletion syndrome has _____________ penetrance and __________ expressivity

A

complete penetrance, variable expressivity

31
Q

FISH probe for 22q11.2 deletion syndrome? ** CMA better **

A

TUPLE1/HIRA (Histone cell cycle Regulation defective S. cerevisiae homolog of A)

32
Q

DiGeorge syndrome II gene region?

A

10p14-p13

33
Q

Gene for autosomal dominant CHARGE syndrome?

A

CHD7
Chromodomain-helicase-DNA-binding protein 7

34
Q

CHARGE syndrome phenotype?

A

Coloboma
Heart defects
Atresia of choanae
Retardation of growth and development
Genital hypoplasia
Ear abnormalities

35
Q

AR conditions associated with 22q11.2 deletion syndrome?

A

SNAP29 -Cerdnik syndrome
GP1BB - Bernard Soulier syndrome
CDC45- craniosynostosis
SCARF2 - Van den Ende -Gupta syndrome
TANGO2 - encephalomyopathic and neurodegeneration

36
Q

22q11.2 duplication syndrome phenotype

A

milder than deletion and variable, inherited from parent
-heart defects
-urogenital anomalies
-velopharyngeal insufficiency with or without cleft palate
-feeding problems
-hearing impairment
-facial dysmorphism

37
Q

der(22)t(11;22) syndrome

A

Emanuel syndrome

38
Q

inv dup of 22

A

Cat eye syndrome

39
Q

Incidence of 22q11.2 deletion syndrome

A

1 in 4,000 (to 6,000)

40
Q

Incidence of 4p16 deletion syndrome?

A

1 in 50,000 births

41
Q

Three genes of 4p16 deletion (Wolf Hirschhorn) syndrome?

A

WHSC1, LETM1 and MSX1 - functions largely unknown in development

41
Q

4p16 deletion (Wolf Hirschhorn) syndrome phenotype

A

Greek warrior helmet
colobomas
CHDs
GU
ID, seizures, microcephaly

42
Q

4p16 deletion (Wolf Hirschhorn) syndrome inheritance?

A

De novo

43
Q

5p microdeletion syndrome incidence?

A

1 in 50,000 (15,000 - 50,000)

44
Q

5p microdeletion syndrome phenotype?

A

Laryngeal malformation - Cri du Chat - 5p15.3
Hypotonia
Microcephaly
Facial features
Cleft palate/lip
Male genital anomalies - cryptorchidism, hypospadias
Renal anomalies
Syndactyly

45
Q

5p microdeletion syndrome facial features?

A

*Head
Microcephaly
Round face
Micrognathia
*Eyes
Hypertelorism
Epicanthal folds
Down slanting palpebral fissures
*Ears
Low set or malformed ears
*Mouth
Dropped-jaw/open-mouth expression (secondary to facial laxity)
Malocclusion of the teeth

46
Q

In 80% of the 5p microdeletion cases, there was __________ (maternal/paternal) inheritance?

A

paternal

47
Q

Incidence of 7q11.23 microdeletion syndrome

A

1 in 10,000
1 in 1750 with inversion
Williams (-Beuren) syndrome

48
Q

Critical gene in 7q11.23 microdeletion syndrome?

A

ELN - elastin

49
Q

Phenotype for 7q11.23 microdeletion syndrome?

A

supravalvular aortic stenosis (SVAS)
autosomal dominant cutis laxa
stellate/lacy iris
broad forehead, bitemporal narrowness
hoarse voice
hypercalcemia, hypercalciuria
ID
Strengths in short term memory
Deficits in visuospatial memory
Overfriendliness, empathy, anxiety, ADD

50
Q

Inheritance for 7q11.23 microdeletion syndrome?

A

De novo

51
Q

7q11.23 microduplication syndrome phenotype?

A

Social phobia/anxiety
Language delay with mild visuospatial impairment
Macrocephaly
Dilation of ascending aorta
Seizures and hypotonia

52
Q

17p12 microdeletion vs microduplication syndromes? *bonus

A

microdeletion - HNPP - PMP22
microduplication - CMT - PMP22

53
Q

17p11.2 microdeletion vs microduplication syndromes?

A

microdeletion - Smith Magenis syndrome
microduplication - Potocki Lupski syndrome

54
Q

Critical gene for 17p11.2 microdeletion/microduplication syndromes?

A

RAI1 -retinoic acid inducer gene

55
Q

Incidence of 17p11.2 microdeletion syndrome?

A

1 in 25,000 (to 15,000)
Smith Magenis syndrome

56
Q

Phenotype of 17p11.2 microdeletion syndrome?

A

Tented upper lip, deep set eyes, coarse features
Inverted sleep pattern
Intolerance to ambient noise
autism, self hug
Onychotillomania
Dermatillomania

57
Q

Inheritance of of 17p11.2 microdeletion syndrome?

A

De novo (almost all)

58
Q

Incidence of 17p11.2 microduplication syndrome?

A

1 in 25,000
Potocki Lupski syndrome

59
Q

Phenotype of of 17p11.2 microduplication syndrome?

A

Hypotonia/FTT
Sleep apnea
autistic
broad forehead
triangular to oval face
heart defects

Clinical Cytogenetics and Molecular Genetics (20 decks)

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