PMC10031590_01
(a) Characteristic dysmorphic facial features, including bulbous nose and
deep-seated eyes, (b) low-set ears, (c) brachydactyly, and (d)
clinodactyly.
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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)).
(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).
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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)).