A Comprehensive Review of Chromosome 6, Partial Trisomy 6q Syndrome

Abstract

Shahin Asadi, Neda Ghazinejhad and Shiva Ghayor

Overview of Chromosome 6, Partial Trisomy 6q Syndrome Partial trisomy syndrome of chromosome 6q is a very rare chro- mosomal disorder in which part of chromosome number six (6q) is present three times (trisomy) instead of twice in the body's cells. Associated symptoms and findings may vary in range and severity from case to case. However, many infants and children with slow physical growth (developmental delay), mental retardation; Mal- formations of the skull and facial area (craniofacial); neck unusu- ally short and reticulated; They have abnormal bending (flexion) or extension of certain joints in fixed positions (joint contractures) or other physical abnormalities. In most cases, partial trisomy syn- drome of chromosome 6q is the result of a balanced translocation in one of the parents.1

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