case_images: PMC10031590_01
case_images: (a) Characteristic dysmorphic facial features, including bulbous nose and
  deep-seated eyes, (b) low-set ears, (c) brachydactyly, and (d)
  clinodactyly.
case_images: 10.1177_2050313X231160883-fig1.jpg
case_images: PMC10031590_01_10.1177_2050313X231160883-fig1.jpg
case_images: fig1-2050313X231160883
case_images: Clinical examination of the patient revealed short stature (109 cm, below 3 SD) and dysmorphic features, including bulbous nose tip, ocular hypertelorism, deep-set and almond-shaped eyes, epicanthal folds, low-set ears, high-arched palate, brachydactyly, clinodactyly, and scoliosis (Figure 1(a)-(d)).
case_images: (a) G-banded karyotype showing atypically elongated short arm of chromosome
  15 (arrow) in the proband and (b) result of CytoScan 750K array exhibiting
  duplication of 9p terminal region (arrow).
case_images: 10.1177_2050313X231160883-fig2.jpg
case_images: PMC10031590_01_10.1177_2050313X231160883-fig2.jpg
case_images: fig2-2050313X231160883
case_images: In order to exclude Turner syndrome, karyotyping (350 bands) was performed, which showed atypically elongated short arm of chromosome 15-46, XX, add(15)(p?) (Figure 2(a)); however, the resolution of the karyotype did not allow to define the origin of the abnormality. In order to define the exact nature of the abnormal chromosome, chromosomal microarray - CMA (Single Nucleotide Polymorphism array, 750K) was performed, which revealed pathogenic 38,584 kb-large 1 copy gain within chromosomal region 9p24.3p13.1 (Figure 2(b)).