PMC5390532_01
Fetal phenotype at 30 WG, fetal cytogenetic assays, and profile of the overlapping deletions described by array-CGH. (a) Fetal phenotype: face; right profile global view of the feet showing equinovarus feet and extreme flexion of the hallux; right foot with 2-3 toes' cutaneous syndactyly. (b) Agilent PreCytoNem 105K array-CGH profile of chromosome 17 showing a 2.5 Mb 17q24.1q24.2 deletion. (c) Profile of the overlapping deletions described by array-CGH (patients of Blyth et al. and Stewart et al. were remapped in hg19).
CRIG2017-7803136.001.jpg
PMC5390532_01_CRIG2017-7803136.001.jpg
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In addition, bilateral 2-3 toes' cutaneous syndactyly, extreme flexion contracture of the hallux, and talipes equinovarus were associated (Figure 1(a)). Array-CGH realized on DNA obtained from uncultured amniotic fluid cells revealed an interstitial deletion of the long arm of chromosome 17 (Figure 1(b)).