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Fig. 3 | BMC Pediatrics

Fig. 3

From: Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q

Fig. 3

The sequencing results of CNV-seq, karyotype, ONT, and OGM. (a) The proband’s mother (III2) and father (III1) showed no copy anomalies on CNV-seq. The proband (IV4) exhibits a heterozygous deletion in chromosome 2 and a heterozygous duplication in chromosome 6; the red arrow shows copy number duplication, and the blue arrow shows copy number deletion. (b) Karyotype shows the chromosome translocation between 2q and 6q of the proband’s father (III1) and the proband (IV4). (c) Long-read technology (ONT) shows that the reads decrease aberrantly at 2q37.1-37.3, and it provides information about the chromosome rearrangement at chr2:232963568/chr6:158731292. (d) OGM shows two translocation breakpoints, one on chromosome 2 and one on chromosome 6

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BMC Pediatrics

ISSN: 1471-2431

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