PMC8671813_01
The clinical phenotypes of the patient. The MRI testing identified the overt carcass dysplasia (A), bilateral forehead subarachnoid space widening (B), right iliac choroidal fissure cyst (C), large cisterna magna (D), and cerebellar sulcus widening (E).
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F1
Figure S1). Furthermore, the patient cannot walk independently. Brain MRI revealed overt carcass dysplasia (Figure 1A), bilateral forehead subarachnoid space widening (Figure 1B), right iliac choroidal fissure cyst (Figure 1C), large cisterna magna (Figure 1D), and cerebellar sulcus widening (Figure 1E).
The SNP array identified a 7q35-7q36.3 (chr7:147,493,985-156,774,460) deletion in the patient.
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F2
His parents' karyotypes were normal (Supplementary Figure S2). CNVs were identified in the proband. Compared with the database of Genomic Variants, a de novo 9.4 Mb deletion ranging from 7q35 to q36.3 (chr7:147,493,985-156,774,460) (hg 38) was detected (Figure 2).
The sumary of reported cases with 7q35-7q36 deletion.
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F3
Real-time quantitative polymerase chain reaction with part of the genomic DNA (SHH gene, the primers were as follows: forward: 5-GCAAGTGGCAACTCACCTA-3, reverse: 5-TTTATTTACCTCAGGCCCTAACC-3) of the trio (the proband and his parents) further confirmed this de novo deletion (Supplementary Figure S3).