chromosomal Abnormalities Flashcards
Name polyploidal numerical chromosomal abnormalities
Down, edward, patau
Name sex chromosomal anurploydi abnormalities
Klinfenter, turner
Name structural chromosomal abnormalities with deletion
Cri du chat
Name microdeletion chromosomal abnormalities
Di-george, angleman, prader will, william
Most common chromosomal abnormality
Down
Fascial and appearance features in down syndrome
- eye: upslanting, epicanthal fold, brushfeild
- nose: flat brydge
- mouth: open and protruded tongue
- general: short, single crease, sandle gap
- risk for conginital heart disease
What endocrinopathies is associated with down
Thyroid, DM.
Most common GI disease in down is
Celiac
What to screen for in a child with down syndrome?
- Heart disease “pulmonary HTN”
- hypothyroid
- hearing
- strabismus
- constipation for hershspurg
- celiac
- sleep apnea.
Types of down syndrome mutations:
1- non-dysjunctional
2- Robenstonian
3- mosaic
What do we see in karyotype in down types:
- 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
Non-dysjunction down happens in which stage of cell divison
Meiosis 2
By age of 40, the risk of down syndrome comes to
1 in 100
Which type of down syndrome will be associated with 100% risk of recurrence
T21,21
what is the mutation in edward 18?
Triosomy 18
How does the hand, feet, jaw, ear look like in edward syndrome
Hand: clench Feet: rocker bottom Jaw: receeding Ear: dysmorphic Head: microcephaly-occipital prominence
How is the prognosis of patau and edward syndrome
Poor almost all will die in <1year
Differentiate between edward, cri du chat and down in tone
Down and cri du chat: hypo
Edward: hyper
What is the genetic mutation in patau syndrome?
Triosomy 13
How does the head and forhead, hand, feet, eyes, lips look like in patau syndrome
- Microcephaly and sloping forhead
- clench fist, polydyctili
- rocker bottom
- ocular abnormalities
- cleft lip and palate
What are the severe mainfestations of patau and edward
Patau: CNS + CVD
Triosomy: CVD + feeding
Differentiate between kline filter and turner syndrome karyotype
Klinefilter: XXY, 47
Turner: X0, 45
How does hair, breast, testicles, stature look like in klinefilter
- frontal baldness, hair on pubis, no hair on chest, poor beard growth
- breast development
- atrophy
- tall
Most characterstic sign of turner syndrome is
Short stature
