PMC7311770_01
(A) Patient's pedigree. A recessive trait was initially suspected on the basis of the parental consanguinity with recurrence in the offspring. The proband's father (individual III.3) was a carrier of a balanced chromosomal translocation. (B) Transverse FLAIR image. Notice the white matter volume loss (asterisk). (C) Sagittal T1 weighted image showing thin corpus callosum (arrowhead) and pontine hypoplasia with dysgenesis of the cerebellar vermis (arrow).
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fig1
Family history is noteworthy as it highlights consanguineous parents, and a brother who died with similar clinical presentation of imperforate anus, congenital heart defect, and clubfeet (Figure 1A). A brain MRI performed at the age of 5 months showed a thin corpus callosum, white matter volume loss, pontine hypoplasia, and dysgenesis of the cerebellar vermis (Figures 1B,C).
(A) Cytogenomic profile of the region of chromosome 4 duplication. Segment duplicated highlighted in blue rectangle. UCSC-Genome Browser-Dec.2013 (GRCh38/hg38) - genomic position/search term: chr4:71552-41263831 - track: GENCODE V29. (B) Cytogenomic profile of the deleted region of chromosome 5. Segment deleted highlighted in red rectangle. UCSC-Genome Browser-Dec.2013 (GRCh38/hg38) - genomic position/search term: chr5:269963-15032936 - track: GENCODE V29. Orange squares are genes considered H-B.
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The approximate genomic position was defined in chr4:71552-41263831 (GRCh38/hg38), comprising 198 genes (Figure 2A). The genomic position was estimated in chr5:269963-15032936 (GRCh38/hg38), comprising 50 genes (Figure 2B).