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

✍ Scribed by B. D. Kuchinka; I. J. Barrett; G. Moya; J. M. Sánchez; S. Langlois; S.-L. Yong; D. K. Kalousek; W. P. Robinson

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
73 KB
Volume
21
Category
Article
ISSN
0197-3851

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✦ Synopsis

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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