Chromosomal problems Flashcards
Downs syndrome testing
first trimester: incr. nuchal translucency, hypoplastic nasal bone, serum PAPP-A down, incr. free beta HCG
second trimester: incr. beta HCG, incr. inhibit A. Decr. alpha-fetoprotein and decr. estriol
Important findings with Down’s
early Alzheimers, singal palmar crease, Hirsprung disease (neural crest migration problem where the intestines aren’t fully innervated), hear disease, exp. atrial septal defects, and incr. risk of AML, ALL, Bushfield spots
(so, head to toe: eyes, heart, blood, gut, brain)
Edwards syndrome symptoms
trisomy 18. small jaw, low set ears, clenched hands, prominent occiput, congenital heart disease
Edwards syndrome screening
first trimester: PAPP-A and free beta hCG down.
second trimester: decr. alpha fetoprotein, decr. beta HCG, decr. estriol, decr or normal inhibin A
Patau syndrome
trisomy 13. causes microopthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, and congenital heard disease
screens for Patau syndrome
first trimester: decr. beta hCG, decr. PAPP-A, incr. nuchal transparency
What chromosomes are most likely to have a Robersonian translocation
13, 14. 15, 21, 22
Cri-du-chat
microdeletion of the short arm of chromosome 5. microcephaly, intellectual disability, high pitched mewing, epicanthal folds, VSD
Williams syndrome
microdeletion of chromosome 7. elfin facies, intellectual disability, hypercalcemia, verbal skills, extreme friendliness with strangers, and CV problems
22q11 deletion syndromes
CATCH-22: cleft palate, abnormal facies, thymic aplasia, cardiac defects, and hypocalcemia from parathyroid dysplasia. causes aberrant development of the 3rd and 4th branchial pouches
Velocardiofacial syndrome
palate, facial and cardiac defects d/t 22q11 deletion syndrome
