Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies

Figure 1

(a) Detailed view of the region with AOH in 3p: arr[hg19] 3p26.1p25.3p25.2(6206901-12352468)x2hmz. (b) The DNA sequences for exon 23 of the FANCD2 gene of the fetus and both parents, visualized with Golden Helix GenomeBrowse 2.0.2 software. The deletion is marked in purple. The DNA sequences of the fetus and parents are shown aligned to the reference human genome sequence (GRCh37 hg19, UCSC) and corresponding amino acid sequence of the FNCD2 protein. The deletion is not reported in dbSNP 144 NCBI and NHLBI Exome Sequencing Project data tracks.

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