Figure 4 Schematic representation of short tandem repeat (STR) genotyping of case 1. (A) Allelic segregation of the tested polymorphic markers. (B) Electropherograms of D11S1923 and D11S995 STRs included in the uniparental region and of D11S911 mapped in 11q13 showing a normal biparental contribution. (C) Allelic segregation of D11S988 and quantification of the paternal uniparental disomy (pUPD) cell line in different fetal tissues and in alleles from amniotic fluid (AF). The biparental component is represented by the maternal allele (arrow). C, umbilical cord; CNS, central nervous system; H, heart; IsoUPDpat, paternal isodisomy; K, kidney; Li, liver; Lu, lung; M/P, maternal and paternal alleles; NI, not informative; T, thymus.