NeurometPlus

Incidence

Very rare syndrome. Sporadic. Monosomy 10p appears to occur spontaneously (de novo) for unknown reasons.

Clinical Characteristics

Chromosome 10, Monosomy 10p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 10 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable, depending upon the exact size or location of the deletion on chromosome 10p. However, associated features often include severe mental retardation; growth delays after birth (postnatal growth retardation); distinctive malformations of the skull and facial (craniofacial) region; a short neck; and/or structural defects of the heart that are present at birth (congenital heart defects). Several cases have also been reported in which affected individuals have some features of DiGeorge syndrome (DGS). DGS is a congenital disorder characterized by underdevelopment or absence of the thymus and parathyroid glands, potentially causing abnormalities of the immune system, deficient production of parathyroid hormone (hypoparathyroidism), a heart defect, and associated findings. In many cases, Chromosome 10, Monosomy 10p appears to occur spontaneously (de novo) for unknown reasons. In summary, deletion of the short arm of chromosome 10 presents with retarded psychomotor development and variable abnormalities, including dwarfism, craniofacial dysmorphism (downslanting palpebral fissures, anteverted nostrils, and eye and ear anomalies), deformed hands and feet, cryptorchidism, and dysplasia of the olfactory system. Deletion of the short arm of chromosome 10 may be associated with DiGeorge syndrome, duplication of the short arm of chromosome 10, long arm of chromosome 5, short arm of chromosome 4, and other chromosomal aberrations.

Precipitants

None

Provocation Tests

None

Diagnostic Procedures

Karyotype. Deletion of the short arm of chromosome 10.