Trisomies

Question 1

Trisomy 13 name

Answer 1

Patau syndrome: 3rd most common and most severe… die w/in first week

Question 2

Trisomy 13 cytogenetics

Answer 2

nondisjunction (47, XX, +13) 2/2 maternal meiosis I .. a/w AMA

Question 3

Tisomy 13 systems

Answer 3

prechordal mesoderm dev’t

1) head and neck
2) CNS
3) extremities
4) cardiac
5) renal
6) GI

Question 4

Trisomy 13 sxs

Answer 4

1) head and neck: severe cleft, microphthalmia, colboma, cyclops, no nose, deaf, scalp defects
2) CNS: MR, microcephaly, holoprosencephaly, neural tube defects
3) extremitieS: polydactyly, rocker-bottom feet
4) cardiac: PDA, ASD, VSD
5) renal: PKD
6) GI: abd wall defects a/w omphalocele or umbilical hernia, pyloric stenosis

Question 5

Edwards Syndrome

Answer 5

Trisomy 18

Question 6

Trisomy 18 sxs

Answer 6

Head and neck

• prominent occiput
• micrognathia
• small mouth
• low-set malformed ears

Extremities

• rocker-bottom feet
• clenched hands w/index finger overriding others

GI
- Meckel’s diverticulum and malrotation