PMC4411697_01
Photographs of the patient at the age of 7 months (frontal and lateral view). Note the downslanting and narrowing of palpebral fissures, broad nasal bridge, stubby nose, smooth philtrum with thin upper lip and everted lower lip, microstomia, low-set ears, and short neck.
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PMC4411697_01_13039_2015_124_Fig1_HTML.jpg
Fig1
Furthermore, the patient had dysmorphic features consisting of microcephaly, slight metopic ridge, low-set ears, downslanting and narrowing of palpebral fissures, broad nasal bridge, stubby nose, smooth philtrum with thin upper lip and everted lower lip, microstomia, narrow palate, short neck, inverted and widely-spaced nipples, broad hands, tapering fingers, single palmar crease on the left palm, and broad feet with short toes and small nails (Figure 1).
Chromosome 10 array-CGH profile of the patient showing a 3.68 Mb deletion at 10pter and a 4.26 Mb deletion at 10qter. A comparison of the extension of the deletions with previously reported patients with ring chromosome 10 is also shown (white bars).
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PMC4411697_01_13039_2015_124_Fig2_HTML.jpg
Fig2
High-resolution breakpoint mapping with a Human ISCA CGH 180 K microarray re-defined the karyotype as 46,XX,r(10)(p15.2q26.3).arr[hg19]10p15.3p15.2(1-3,678,763)x1,10 q26.3(131,276,836-135,534,747)x1, indicating an approximately 3.68 Mb deletion in 10p and a 4.26 Mb deletion in 10q (Figure 2). In all previously reported patients with ring chromosome 10, the breakpoints in 10q are variable but more proximal to the centromere (Figure 2).