Chromosome 3p deletion syndrome. 3p minus syndrome.
Incidence
Chromosome 3, Monosomy 3p appears to occur spontaneously (de novo) for unknown reasons.
Clinical Characteristics
Chromosome 3, Monosomy 3p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 3 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable. However, associated features often include growth delays before and after birth (prenatal and postnatal growth deficiency); severe to profound mental retardation; distinctive malformations of the skull and facial (craniofacial) region; eyebrows that grow together (synophrys); and/or excessive hair growth (hypertrichosis). Additional physical abnormalities may also be present. In many cases, Chromosome 3, Monosomy 3p appears to occur spontaneously (de novo) for unknown reasons. Deletion of the short arm of chromosome 3 with variable anomalies which include growth failure, psychomotor retardation, craniofacial deformities with unusual facies, postaxial polydactyly, musculoskeletal defects, and other malformations.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Chromosome 3, Monosomy 3p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 3 is missing (deleted or monosomic).