To avoid the possibility of a deletion on one chromosome, we omitted from consideration all loci contained in a deleted regions in any individual (either in our data or in the Database of Genomic Variants).
A deletion on one or both copies can lead to severe impacts on fertility [ 18, 20].
The four cases of leukaemia occurred in patients with different deletions: one ALL in a patient with an 8p deletion, one AML in a patient with a 20q deletion, one acute leukaemia NOS in a patient with a deletion on chromosome 5 and one CML in a patient with an 18q deletion.
We identified two dNFs containing a large deletion: one located in chromosome 2q24.2 q31.1 P090-3NN) of about 15.3 Mb and the other in chromosome 3q11.2 q22.1 P072-1NN) of about 39.8Mb (Fig. 5).
For example, this can result when a gene deletion on one lineage means that no true ortholog exists in a given species.
In Table 2, the remaining seven nucleotide variants are listed: among them, four were predicted to cause a non-synonymous (ns) amino acid exchange, one an in-frame deletion, one an insertion, and finally, one an essential splice site alteration.
(K ) Different sister chromatids, one carrying a deletion and one without a deletion, are produced by completion of replication.
All loci in this study were bi-allelic; the majority were SNPs, although one was a deletion and one was a variable number of tandem repeats polymorphism (VNTR) with two alleles.
Among four cases showing a questionable 1p deletion, one was confirmed by the FISH result, the three other did not show any deletion by FISH and/or array-CGH, and were classified as type 2a.
Another example derives from a sample containing a partial B3GALTL gene deletion on one allele (exons 8 15) and a splice site mutation on the other allele (c.660+1G>A).
