PMC5811181_01
(A) Dysmorphic features of the patient, including pinched nose, long philtrum, and micrognathia; (B) brain magnetic resonance imaging showing partial agenesis of cerebellar vermis; (C) G-banding chromosomal analysis showing isochromosome 18p (arrow).
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He had the following dysmorphic features: low-set ears, intact high-arched palate, depressed nasal bridge, and micrognathia (Figure 1). He displayed dysmorphic features, including microcephaly, low-set posteriorly rotated ears, synophrys, pinched nose, long philtrum, strabismus, depressed nasal bridge, epicanthal fold, micrognathia, and low anterior hairline (Figure 1). Brain magnetic resonance imaging (MRI) revealed partial agenesis of cerebellar vermis (Figure 1), and renal ultrasound showed bilateral hydroureter and hydronephrosis. Chromosomal analysis from cultured cordocentesis was done at 32 weeks of pregnancy and revealed 47,XY,+mar karyotype with an extra free marker chromosome in all examined cells (Figure 1). Further investigation using FISH signal patterns revealed the presence of three copies of chromosome 18 centromere in all examined cells with the possibility of isochromosome 18p (Figure 1).