Title:A broad spectrum manifestation in a case affected by 3q29 microdeletion syndrome: a literature review and in silico analysis

Author:Seyed Mokhtar Esmaeilnejad-Ganji, Alireza Paniri, Monireh Golpour, Reza Tabaripour and Haleh Akhavan-Niaki

Abstract:Background and Objective: 3q29 microdeletion syndrome, is a rare condition with a wide spectrum of clinical manifestations from behavioural features including autism to developmental delay such as speech and walking delays caused by a small deletion at 3q29. Low copy repeats surrounding this region prone it to non-allelic homologous recombination. We investigated the karyotype of a 24 years-old patient suffering from skeletal deformity, cardiac anomaly, intellectual disability, and dysmorphic face.
Results: Obtained results from high-resolution banding for 3q29 deletion in a patient revealed subtelomeric deletions in chromosome 3. Furthermore, the analysis of her parents revealed a normal karyotype although her mother showed mild intellectual disability.
Conclusion: We identified a de novo 3q29 microdeletion in a non-caucasian subject with several variable phenotypes comprising intellectual disability, skeletal deformities, asymmetric long narrow face with a long thin lip, genitourinary defect, and heart defect.
Keywords: 3q29 microdeletion, cardiac defect, developmental disabilities, skeletal deformity, in silico.
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