TRISOMY 8 MOSAICISM: CELL CYCLE KINETICS AND ...

Case Report
RESULTS
Amniocentesis, performed due to abnormal maternal serum triple screen,
diagnosed the fetus with T8m. Twenty-five metaphase cells were investigated and
resulted in 47,XY+8 [8] and 46,XY [17]. The male infant was delivered naturally at 40
weeks gestation and weighed 3.3kg, which falls in the 50 th percentile. Physical
manifestations included bitemporal narrowing, large fleshy ears, hypoplastic nails, deep
palmar and plantar furrows, first-degree hypospadias, severe cardiac enlargement
secondary to pulmonary hypertension, and feeding difficulties. The infant expired at 8
weeks of age due to pulmonary hypertension.
At the time of birth various fetal tissues were collected including peripheral
blood, cord blood, umbilical cord (blood vessel), and extra-embryonic tissues including
chorion, amnion, and villi. Each sample was investigated separately for metaphase and
interphase analysis, and cell cycle kinetics.
Tissue Mosaicism Determination
Once the tissues were cultured and harvested, the slides were prepared and
G-banded (see figures 1 and 2) for analysis of mosaicism percentage. Trisomy 8 cells
were found in every sample, except for the transformed lymphoblasts (see Table 1).
17