AI Article Synopsis
- A male fetus was found to have a 6.8 Mb deletion on chromosome 7p22.1p22.3 during a 16-week ultrasound.
- The fetus exhibited multiple abnormalities, including heart-hand syndrome, heart artery malposition, bilateral radial ray deficiency, a single pelvic kidney, and growth retardation.
- This deletion affects the RAC1 gene, linked to limb defects in mice, and marks the third known case in humans with similar limb anomalies.
Article Abstract
We report a male fetus with a 6.8 Mb deletion on chromosome 7p22.1p22.3 at 16 weeks of gestation. The fetus presented a heart-hand syndrome with great artery malposition, bilateral radial ray deficiency, a single pelvic kidney, and growth retardation. This deletion involves a minimal deleted region for cardiac malformation and the RAC1 gene, previously described in limb anomalies in mice. This fetus is the third human case with limb defects and RAC1 deletion.
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| http://dx.doi.org/10.1177/1093526618799293 | DOI Listing |
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