cytogenetics diseases

Question 1

trisomy 13

• aka
• karyotype
• fey features

Answer 1

• patau
• 47,XY,+13
• very poor prognosis, only 5% live after 6months
• scalp defects, microcephaly, microphthalmia, holoprosencephaly
• CHD
• polydactyly
• renal problems

Question 2

trisomy 18

• aka
• karyotype
• fey features

Answer 2

• edwards
• 47,XY,+18
• very poor prognosis, only 5% live past a year
• small size, small head circumferance
• CHD
• overlapping fingers
• rocker bottom feet

Question 3

trisomy 21

• aka
• karyotype
• fey features

Answer 3

• 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

Question 4

turner syndrome

• aka
• karyotype
• fey features

Answer 4

• 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)

Question 5

kleinfelters

• aka
• karyotype
• fey features

Answer 5

47,XXY

• tall stature
• learning disabilities
• gyenecomastia after puberty
• small testicles
• infertility due to hypogonadism with oligospermia/azoospermia