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Clinical genetics

G/WEDS/GEN1 A CASE OF DEL(4)(Q33): PRESENTATION OF A GIRL WITH AN ENCEPHALOCELE
A. Vaglio¹, M. Larrandaburu¹, B. Mechoso¹, A. Quadrelli¹, R. Quadrelli¹, H. Zhu², Y. Fan², T. Huang³, E. Strehle⁴.¹Hospital Italiano, Montevideo, Uruguay; ²Mailman Center for Child Development, Miami, USA; ³University of California, Irvine, USA; ⁴Centre for Life, Newcastle upon Tyne, UK

We present clinical and developmental data on a girl with a de novo terminal deletion of the long arm of chromosome 4, del(4)(q33). The patient was evaluated at birth and followed up until 5 years of age. She showed facial and digital dysmorphism, a complex congenital heart defect, a large occipital encephalocele and postnatal growth deficiency. Her neuropsychomotor milestones were delayed and she developed learning difficulties. Apart from standard Giemsa banding, a molecular genetic analysis was performed using a comparative genomic hybridization (CGH) array. This revealed a terminal deletion at the band 4q32.3, which is directly adjacent to 4q33. The . . . [Full text of this article]