Chromosome 10q deletion syndrome. 10q minus syndrome. Monosomy 10q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Deletion of the long arm of chromosome 10 with delayed physical and mental development and relatively nonspecific variable abnormalities. The phenotype varies in relation to the type of deletion. The most frequent abnormalities which are common to all types include microcephaly, congenital heart defects, and hypotonia. Terminal deletion is usually characterized by anoxia and respiratory distress at birth, frequent prematurity, malformed ears, prominent nose, hypertelorism, strabismus, and short or webbed neck. Patients with ring chromosome 10 usually have hydronephrosis, bladder obstruction, cryptorchidism, and hypoplastic scrotum.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Deletion of the long arm of chromosome 10