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Case Reports
. 2001 Jan;21(1):36-9.
doi: 10.1002/1097-0223(200101)21:1<36::aid-pd979>3.0.co;2-1.

Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy

B D Kuchinka  1 , I J Barrett, G Moya, J M Sánchez, S Langlois, S L Yong, D K Kalousek, W P Robinson
Affiliations
Case Reports

Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy

B D Kuchinka et al. Prenat Diagn. 2001 Jan.

Abstract

Two cases of trisomy 4 mosaicism are reported including one with molecularly confirmed uniparental disomy (UPD) of chromosome 4. Cytogenetic analysis of a chorionic villus sample (CVS) in Case 1 showed complete trisomy 4 in trophoblast and diploidy in chorionic stroma. Amniotic fluid analysis demonstrated a 46,XX complement. After intrauterine fetal death at 30 weeks, molecular analysis confirmed the presence of trisomy 4 of maternal meiotic origin, while fetal tissues showed maternal UPD for chromosome 4. Cultured CVS in Case 2 revealed trisomy 4 in 2/30 cells analyzed. This pregnancy resulted in a healthy livebirth with biparental inheritance of chromosome 4. Molecularly confirmed UPD4 has not been previously reported, and therefore, although the adverse outcome in Case 1 is likely due to the trisomy 4 in the placenta, an imprinting effect associated with UPD4 cannot be excluded.

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