The 18q deletion syndrome is among one of the commonest cytogenetic abnormalities with an incidence of 1 in 40000 live births without any ethnic predilection. Here we a present a with multiple dysmorphic features like micrognathia, large forehead, flat midface, hypertelorism, prominent antihelix, moon face with full cheeks were recognized, flat nasal bridge, thin lips and short neck and overlapping of the fingers. A MRI brain was done which showed enlarged ventricle with abnormal signal intensities in bilateral frontal and periventricular region. High resolution and G-banding chromosome analysis using peripheral lymphocytes was performed due to her many symptoms, which revealed a unique karyotype of 46, XX, del 18q3.1.

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Dr Syed M Azad

ICH, Kolkata