Chromosome 15 inverted duplication. Inv dup (15) chromosome syndrome
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Inverted duplication of chromosome 15, wherein a segment of chromosome 15 is reversed end-to-end, associated with variable clinical and cytogenetic manifestations. Supernumerary inv dup(15) chromosomes are most commonly associated with moderate to severe mental retardation, behavioral disorders, and seizures with a wide variety of structural malformation or with the normal phenotype. Inv dup(15) was reported in Angelman and Prader-Willi syndromes. The phenotype is believed to be determined by the extent of the duplicated region, by the dosage of genes located within band 15q13, and the origin of chromosome 15.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Chromosome 15 inverted duplication.