Chromosome 15q deletion syndrome. 15q minus syndrome. Monosomy 15q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Deletion of the long arm of chromosome 15 usually associated with variable phenotype. Microcephaly, beaked nose, microcorneae, talipes equinovarus, hypoplastic labia majora, and growth and mental retardation are the the major symptoms. Deletion was also reported in Prader-Willi syndrome with hyperlipidemia and insulin-dependent diabetes mellitus with retinal and renal complications.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Chromosome 15q deletion.