PMC4395939_01
Dysmorphic features including macrocephaly low-set ears, coarsened appearance, downslanting palpebral fissures, long eyelashes, long philtrum, hypertelorism and a short, broad nose
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F1
He presented at 5 months of age with hypotonia and craniofacial anomalies, including macrocephaly (head circumference; 48 cm), low-set ears, coarsened appearance and downslanting palpebral fissures, long eyelashes, long philtrum, hypertelorism and a short, broad nose [Figure 1].
Sagittal T1-weighted image shows dysmorphic corpus callosum with an underdeveloped splenium and absent rostrum
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F2
Magnetic resonance imaging revealed a dysmorphic corpus callosum with an underdeveloped splenium and absent rostrum together with volume loss of white matter and dilated perivascular spaces [Figure 2].
(a) Partial karyotype of the patient. The derivative chromosome 9 originating from t(8;9) (p11.2;p22) is seen in the middle (b) Partial karyotype of the patient's father with the translocation chromosomes der (8) and der (9) as well as normal 8 and normal 9
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F3
The results of chromosome analysis revealed a karyotype reported as 46, XY, der (9) t (8;9) (p11.2;p22) [Figure 3a]. The origin of the derivative chromosome was a familial translocation detected in our patient's father and his cousin's mother [Figure 3b].