Chromosome 10q duplication syndrome. 10q+ syndrome. Trisomy 10q
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Chromosome 10, Distal Trisomy 10q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of one chromosome 10 (10q) appears three times (trisomy) rather than twice in cells of the body. The disorder is characterized by unusually slow growth before and after birth (prenatal and postnatal growth retardation); abnormally diminished muscle tone (hypotonia); severe mental retardation; and severe delays in the acquisition of skills requiring coordination of mental and muscular activities (psychomotor retardation). Affected infants and children may also have distinctive malformations of the head and facial (craniofacial) area; defects of the hands and/or feet; and/or skeletal, heart (cardiac), kidney (renal), and/or respiratory (pulmonary) abnormalities. The range and severity of symptoms and physical findings may vary from case to case, depending upon the exact length and location of the duplicated portion of chromosome 10q. In most cases, Chromosome 10, Distal Trisomy 10q is due to a chromosomal balanced translocation in one of the parents. In summary, duplication of the long arm of chromosome 10 presents with cardiac, renal, and respiratory complications, orofacial dysmorphism, and psychomotor retardation which vary with different karyotypes.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. There is duplication of the long arm of chromosome 10.