Chromosome 6q duplication syndrome. 6q+ syndrome. Trisomy 6q.
Incidence
Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder. In most cases, Chromosome 6, Partial Trisomy 6q has been the result of a balanced translocation in one of the parents.
Clinical Characteristics
Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder in which a portion of the 6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may vary in range and severity from case to case. However, many affected infants and children have slow physical development (growth retardation); mental retardation; malformations of the skull and facial (craniofacial) region; an unusually short, webbed neck; abnormal bending (flexion) or extension of certain joints in fixed postures (joint contractures); and/or other physical abnormalities. In most cases, Chromosome 6, Partial Trisomy 6q has been the result of a balanced translocation in one of the parents. Duplication of the long arm of chromosome 6 with intrauterine growth retardation, dolichocephaly, depressed nasal bridge, almond-shaped palpebral fissures, short neck, flexion contractures of the wrists, hypertonia, and retarded mental development.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the long arm of chromosome 6