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Flashcards in Prenatal Genetics Deck (11):
1

define polyploid vs. aneuploid

polyploid: numerical deviation involving an exact multiple of the haploid number (n = 23)
aneuploid: numerical deviation NOT involving an exact multiple of the haploid number (i.e., trisomy 18, where there are there copies of only chromosome 18)

2

____ triploidy: extra chromosome set of maternal origin
____ triploidy: extra chromosome set of paternal origin

diGYNic; diANDRic

3

Down syndrome: genetic change, clinical findings

trisomy 21; intellectual disability, flat facies, prominent epicanthal folds, single palmar crease, heart malformations, GI abnormalities

4

dx: neonate with rocker-bottom feet, micrognathia, microcephaly

trisomy 18 (Edwards syndrome)

5

trisomy 18 (Edwards syndrome): clinical findings

severe intellectual disability, rocker-bottom feet, micrognathia, microcephaly

6

trisomy 13 (Patau syndrome): clinical findings

severe intellectual disability, microphthalmia, polydactyly, cleft lip/palate, brain and heart malformations

7

Turner syndrome: genetic change

monosomy X

8

what is a Roberstonian translocation?

short arms of two chromosomes are lost and the remaining long arms are joined

9

what 3 types of drugs can cause fetal defects?

retinoic acid (for acne), valproic acid (anticonvulsant), SSRIs (only in 3rd trimester)

10

dx: intellectual disability, long face with long jaw, large everted ears, autism

Fragile X syndrome

11

Fragile X syndrome: pathogenesis, clinical features

trinucleotide repeats within the X chromosome; intellectual disability, long face with long jaw, large everted ears, autism