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Additional supporting information may be found in the online version of this article.

FilenameFormatSizeDescription
ajma_32714_sm_SuppFig1.pdf100KSupporting Information Figure 1: Photographs of the proband showing dysmorphic features. Visible are the mild upslanting of the eye, broad nasal bridge, long philtrum, carp-shaped mouth with thin lips, short, mildly webbed neck and low-set malformed ears. A) Frontal view B) right-sided view
ajma_32714_sm_SuppFig2.pdf134KSupporting Information Figure 2: Detection of an unbalanced fetal constitution in uncultured and cultured amniotic fluid (AF) cells. A) Interphase FISH on uncultured AF cells using FISH probes RP1-44H16 (11pter, green) and RP1-26N8 (11qter, red), and B) using CTB-124K20 (12pter, red) and RP1-221K18 (12qter, green) showed a deletion of RP1-26N8. C) GTG-banded chromosomes 4, 11 and 12 from the foetus. Arrows marked with * show normal chromosomes, the arrow marked with ! shows the der(11). D) Metaphase FISH on cultured AF cells using FISH probes RP1-44H16 (11pter, green), and RP1-26N8 (11qter, red) and E) using CTB-124K20 (12pter, red) and RP1-221K18 (12qter, green) confirmed the deletion of RP1-26N8.
ajma_32714_sm_SuppTable1.pdf30KSupporting Information Table I: Possible maternal and paternal gametes and fetal constitutions for (maternal) chromosomes 4 and 11 and (paternal) chromosomes 11 and 12.

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