Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 1.

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Fig. 1. Family pedigree. The four family members with overgrowth, intellectual disability, and dysmorphic facial features had epilepsy (in the proband and mother), cardiac anomalies (valvar pulmonary stenosis with or without a persistent left superior vena cava in both siblings), a large arachnoid cyst (in the mother), and genitourinary anomalies (hydronephrosis and cryptorchidism in the younger brother). They were diagnosed with Cohen–Gibson syndrome based on whole-exome sequencing and/or Sanger sequencing.
Journal of Genetic Medicine 2021;18:70-4
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