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. 2020 Oct 30;9(11):3517. doi: 10.3390/jcm9113517

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© 2020 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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Graphic representation of NIPD by relative haplotype dosage analysis (RHDO) result for (a) Family L and (b) Family M at risk of maternal inheritance of retinoblastoma. Haplotype blocks are represented by contiguous arrows spanning a 5 Mb genomic region on chromosome 13 (black line) containing RB1 (orange bar). Red arrows indicate the fetus has inherited the mutated maternal (M-ma) allele. Blue arrows indicate the fetus has inherited wild-type (N-ma) alleles. The position of informative single nucleotide polymorphisms (SNPs) used to identify haplotype blocks is shown for both alpha (green triangles) and beta (green crosses) SNPs.