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Pediatrics > chromosomal Abnormalities > Flashcards

chromosomal Abnormalities Flashcards

1
Q

Name polyploidal numerical chromosomal abnormalities

A

Down, edward, patau

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2
Q

Name sex chromosomal anurploydi abnormalities

A

Klinfenter, turner

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3
Q

Name structural chromosomal abnormalities with deletion

A

Cri du chat

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4
Q

Name microdeletion chromosomal abnormalities

A

Di-george, angleman, prader will, william

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5
Q

Most common chromosomal abnormality

A

Down

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6
Q

Fascial and appearance features in down syndrome

A
  • eye: upslanting, epicanthal fold, brushfeild
  • nose: flat brydge
  • mouth: open and protruded tongue
  • general: short, single crease, sandle gap
  • risk for conginital heart disease
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7
Q

What endocrinopathies is associated with down

A

Thyroid, DM.

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8
Q

Most common GI disease in down is

A

Celiac

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9
Q

What to screen for in a child with down syndrome?

A
  • Heart disease “pulmonary HTN”
  • hypothyroid
  • hearing
  • strabismus
  • constipation for hershspurg
  • celiac
  • sleep apnea.
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10
Q

Types of down syndrome mutations:

A

1- non-dysjunctional
2- Robenstonian
3- mosaic

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11
Q

What do we see in karyotype in down types:

A
  • Non: 47 chromosomes,with 3 chromosomes 21 in every cell
  • robensonian: 46 with part of chromosome 21 attached to another chromosome in every cell
  • mosaic: some cells with 21 extra chromosome, some without
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12
Q

Non-dysjunction down happens in which stage of cell divison

A

Meiosis 2

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13
Q

By age of 40, the risk of down syndrome comes to

A

1 in 100

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14
Q

Which type of down syndrome will be associated with 100% risk of recurrence

A

T21,21

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15
Q

what is the mutation in edward 18?

A

Triosomy 18

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16
Q

How does the hand, feet, jaw, ear look like in edward syndrome

A 
Hand: clench
Feet: rocker bottom
Jaw: receeding
Ear: dysmorphic
Head: microcephaly-occipital prominence
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17
Q

How is the prognosis of patau and edward syndrome

A

Poor almost all will die in <1year

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18
Q

Differentiate between edward, cri du chat and down in tone

A

Down and cri du chat: hypo

Edward: hyper

19
Q

What is the genetic mutation in patau syndrome?

A

Triosomy 13

20
Q

How does the head and forhead, hand, feet, eyes, lips look like in patau syndrome

A
  • Microcephaly and sloping forhead
  • clench fist, polydyctili
  • rocker bottom
  • ocular abnormalities
  • cleft lip and palate
21
Q

What are the severe mainfestations of patau and edward

A

Patau: CNS + CVD
Triosomy: CVD + feeding

22
Q

Differentiate between kline filter and turner syndrome karyotype

A

Klinefilter: XXY, 47
Turner: X0, 45

23
Q

How does hair, breast, testicles, stature look like in klinefilter

A
  • frontal baldness, hair on pubis, no hair on chest, poor beard growth
  • breast development
  • atrophy
  • tall
24
Q

Most characterstic sign of turner syndrome is

A

Short stature

25
Q

How does the head, eye, palate,nose, stature look like in cri du chat syndrome

A
  • Microcephaly with metopic suture
  • epicanthal fold and hypetolerism
  • high arched
  • flat and wide
  • short
26
Q

Most characterstic presentation of cri du chat

A

Cat-like cry

27
Q

Di george syndrome is characterized by

A

CATCH 22

  • Cardiac abn
  • abnormal facies
  • thymic abnormalitis
  • cleft palate
  • hypocalcemia
  • chromosome 22
28
Q

Other manifestations of Edward

A

Intellectual disability Incompatible with life Septal difficulties Feeding problems

29
Q

What is the abnormality in CVS turner syndrome

A

Mitrall valave prolapse

30
Q

Features of Fragile X-syndrome

A

very long face, mental retardation, large ears and jaw

Macroorchidism

31
Q

If you see a neonate with r teratology of fallot + cleft palate>

A

Do fish screening for digeorge

32
Q

pradar willi syndrome is chromosome ……. deficency

A

15

33
Q

How to diff between pradar willi and angle man syndrome by chromosomal basis

A

Both are Ch15q11-13
However
- pradar: paternal
- angleman: maternal

34
Q

How to diff between pradar willi and angle man syndrome by appearance

A
  • angelman: fine hair and skin — large mouth\prognathism — laugh (severe intellectual disability) neurological impairment (ataxia, walking)
  • pradar: obese & short — almond eyes — sever hypotonia
35
Q

How to diagnose angelman and pradar will

A

Karyotype

36
Q

What is the wiliam syndrome chromosomal abnormalities

A

Ch7q11-23

37
Q

What is the cardiac mainfestation of wiliam syndrome

A

Supravalvular aortic stenosis

38
Q

What is the features of wiliam syndrome

A

round face, full cheeks and lips, long philtrum, stellate pattern in iris, periorbital edema, epicanthal folds

39
Q

What is the deletion in cri du chat

A

Ch5

40
Q

Pradar willi
Cri du chat
Down syndrome
Are all similar in that they have

A

Hypotonia

41
Q

What are marfan syndrome paatients prone to develop?

A

Pneumothorax

42
Q

What is the inheretence of marfan syndrome?

A

AD

43
Q

What is the abonormalitiy of CVS in marfan syndrome

A

Aortic route dilitation

Pediatrics (41 decks)

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