Chromosome 8p deletion syndrome. 8p minus syndrome. Monosomy 8p.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Chromosome 8, Monosomy 8p2 is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome. Associated symptoms and findings may vary greatly in range and severity from case to case. However, common features include growth deficiency; mental retardation; malformations of the skull and facial (craniofacial) region, such as a small head (microcephaly) and vertical skin folds that may cover the eyes' inner corners (epicanthal folds); heart (cardiac) abnormalities; and/or genital defects in affected males. Additional craniofacial features may also be present that tend to become less apparent with age, such as a short, broad nose; a low, wide nasal bridge; and/or a small jaw (micrognathia). In most cases, Chromosome 8, Monosomy 8p2 appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons. Deletion of the short arm of chromosome 8 shows postnatal growth retardation, microcephaly, subnormal mentality, epicanthal folds, malformed ears, brevicollis, widely spread nipples, heart defects, and other abnormalities. Congenital spherocytic anemia may occur.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. There is deletion (monosomy) of a portion of the eighth chromosome.