cytogenetics diseases Flashcards
1
Q
trisomy 13
- aka
- karyotype
- fey features
A
- patau
- 47,XY,+13
- very poor prognosis, only 5% live after 6months
- scalp defects, microcephaly, microphthalmia, holoprosencephaly
- CHD
- polydactyly
- renal problems
2
Q
trisomy 18
- aka
- karyotype
- fey features
A
- edwards
- 47,XY,+18
- very poor prognosis, only 5% live past a year
- small size, small head circumferance
- CHD
- overlapping fingers
- rocker bottom feet
3
Q
trisomy 21
- aka
- karyotype
- fey features
A
- down syndrome
- physical: flat facial features, upslanted palpebral fissures,anomalous auricles, nuchal skin fold, single palmar crease, clinodactyly, hypotonia, hypermobility
- intellectual disability
- CHD
- gastrointestinal abnormalities
- atlantoaxial instability
- strabismus
- thyroid abnormalities
- leukemia
4
Q
turner syndrome
- aka
- karyotype
- fey features
A
- 45,X
- 46, X del(X)
- may have normal appearance at birth
- lymphedema at birth
- bicuspid aortic valve, -coarctation of aorta
- short stature
- infertility (streak ovaries)
- low posterior hair line, webbed neck, widely-spaced hypoplastic nipples
- horseshoe kidney
- cubitus valgus of elbow (increased carrying angle)
5
Q
kleinfelters
- aka
- karyotype
- fey features
A
47,XXY
- tall stature
- learning disabilities
- gyenecomastia after puberty
- small testicles
- infertility due to hypogonadism with oligospermia/azoospermia
