chromasome abnormalities (Downs, Edwards, Patau, DiGeorge, Cri-du-chat)

Question 1

cause of hypertonia with clenched hands and overlapping fingers in a newborn?

Answer 1

trisomy 18 due to meotic non-disjuunction

Question 2

what cardiac abnormalties are associated with 47,XX +18?

Answer 2

ventricular septal defect, PDA

Question 3

in addition to cardiac abnormalties what other conditions are associated with 47,XX +18?

Answer 3

horshoe kidney
Meckel’s diverticulum
gut malrotation

Question 4

what condition is associated with holoprosencephaly, cleft lip/palat, polydactyly, omphalocele and umbilical hernia?

Answer 4

Trisomy 13 (patau)

Question 5

which congential defect has cutis aplasia?

Answer 5

patau

Question 6

which congenical defect presents with a weak cry, hypotonia, failure to thrive, microcephaly, low-set ears, hypertelorism (wide set eyes) and broad nasal bridge?

Answer 6

cru-du-chat 5p deletion