| Garcia-Minaur18 LCR30–LCR4 ~1.5 Mb microsats/FISH 1 case (pat) | Our case ~1.4 Mb oligo array | Ben Shachar8 LCR4–LCR5 ~1.4 Mb BAC arrays 4 Cases | Saitta10 LCR4–LCR6 ~2.1 Mb cosmid FISH 1 case | Ben Shachar8 LCR4–LCR6 ~2.1 Mb BAC arrays 2 Cases | Rauch7 LCR4–LCR6 ~2.1 Mb FISH/PCR 1 case | Mikhail9 LCR4–LCR6 1.55–1.92 Mb BAC arrays 1 case |
---|---|---|---|---|---|---|---|
Cardiac defect | TOF | VSD+ASD | 1/4 bicuspid aortic valve | VSD+ truncus arteriosus | 1-/2 truncus arteriosus | VSD | - |
bifid uvula | Â | Â | Â | + | Â | Â | Â |
cleft palate | Â | Â | - | Â | 1/2 | Â | Â |
short stature | Â | + | Â | + | Â | Â | Â |
microcephaly | Â | + | Â | + | Â | Â | Â |
hypoplastic nasal alae | Â | Â | 3/4 | + | 1/2 | Â | Â |
smooth philtrum | Â | Â | + | + | + | Â | Â |
dev delay | Â | Â | 3/4 | Â | + | Â | Â |
arched eyebrows | Â | Â | 2/4 | Â | + | Â | + |