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Page 126 Fichera et al. J Transl Genet Genom 2020;4:114-32 I http://dx.doi.org/10.20517/jtgg.2020.16

Figure 5. Visualization of the short region of overlaps (SROs) and probability profiling of genomic regions linked to selected traits. (A-D)
(top) A screenshot covering 31.8 Mbs at 1q23.3-q31.3 shows the alignment of the deletions in our cases and in the literature. The black
bars indicate cases with the selected clinical feature among those reported in del(1) cases [(A) intellectual disability, (B) microcephaly,
(C) Short hands and feet, and (D) brachydactyly], while the gray bars represent cases without. The vertical yellow box indicates the
[1]
proximal SRO (SRO-P, chr1:164,501,003-16,7022,133) of Chatron , while the light blue vertical box represents the new SROs indicated
by 1-3 defined by this study (see Table 2 for the details). (bottom) A graph showing the estimated probability distribution of the
genomic location of the disease loci associated with the traits

In particular, two SROs (SRO-I and -D) are described as associated with IUGR resulting in short stature up
to -5 SD, microcephaly up to -4 SD, small hands and feet with fifth finger clino-brachydactyly, and variable
degree of ID, in addition to peculiar facial dysmorphisms [1,2,4,6] .

Indeed, our subjects with deletion including both SRO-I and -D (Figure 4, Cases 2-4) exhibited all these
features [Figures 1 and 2, Table 1]. On the contrary, our Case 5 with a de novo 1q24.3q25.2 deletion (5.9 Mb,
chr1:172,667,560-178,548,677) that did not contain the SRO-I and only partly the proximal portion of
SRO-D [Figure 4] has no ID or microcephaly, works in a qualified profession, and has a stature at the 25th
[7]
percentile for the Sardinian population . He also does not show any of the dysmorphic features [Figure 3A
and Table 1] reported for the overlapping 1q24q25 deletions. However, his nine-month-old daughter (Case 6)
with the same 1q deletion [Figure 4] had a history of IUGR and showed mild craniofacial dysmorphisms,
including microcephaly (-3 SD), micro-retrognathia, and short neck [Figure 3B], as observed in our Cases