PMC7487539_01
a-d Patient with coarse facies, narrow forehead, telecanthus, epicanthus, convergent strabismus, synophrys, hirsutism, broad nasal bridge, large ears, brachydactyly, and aberrant palmar creases; e aCGH showing an interstitial deletion of 7.2 Mb with breakpoints in bands 1p36.31p36.21: arr[GRCh37/hg19] 1p36.31p36.21(5414227_12632782)x1 dn; f DAPI counterstain FISH for the 1p36 region on metaphase chromosomes: locus specific probe for 1p36 marked with red fluorochrome (SureFISH, Agilent technologies, Santa Clara, USA) (one red arrow) and alpha satellite probe for chromosome 1 (chr1 CEP probe) marked with green fluorochrome (SureFISH, Agilent technologies, Santa Clara, USA) (one green arrow); deleted chromosome 1 with only one green fluorescent signal (one green arrow) and missing the red signal (two red arrows). Analysis was performed using an AXIO ImagerMI (Zeiss, Germany) microscope, and the images were obtained and analyzed using ISIS software (Meta Systems, Germany)
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PMC7487539_01_13039_2020_510_Fig1_HTML.jpg
Fig1
On physical examination, he showed weight, height, and cranial circumference below the 3rd percentile; coarse facies; narrow forehead; telecanthus; epicanthus; convergent strabismus; synophrys; hirsutism; a broad nasal bridge; large ears; teletelia; diastasis recti; retractile testes; and hands with brachydactyly and aberrant palmar creases (Fig. 1a-d). G-banded karyotype, echocardiogram, and cerebral computed axial tomography scans did not reveal any alteration; aCGH showed an interstitial deletion of 7.2 Mb with breakpoints at bands 1p36.31p36.21 (5,414,227-12,632,782; Fig. 1e). We confirmed this result using FISH analysis (Fig. 1f).
The USCS genome browser (GRCh37/hg19) showed more than 80 genes involved in the deleted region in our patient (green rectangle) which overlaps with both the proximal region (red rectangle) and the distal region (blue rectangle). Also, we showed that the HES3 gene (red star) is included in both our patient's deleted region (green rectangle) and Neal's deleted region (yellow rectangle)
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PMC7487539_01_13039_2020_510_Fig2_HTML.jpg
Fig2
The deletion encompassed more than 80 genes (USCS genome browser, GRCh37/hg19; Fig. 2).