Chromosome 4q deletion syndrome. 4q minus syndrome. Monosomy 4q syndrome.
Incidence
Rare syndrome. Several deletions are included. Mental retardation is usually associated with terminal deletions; interseptal 4q deletions do not appear to be associated with a specific phenotype.
Clinical Characteristics
Chromosome 4, Monosomy 4q is a chromosomal disorder caused by a partial deletion of the long arm of chromosome 4. The patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of ears, short broad hands and feet, unusually small size associated with slow or delayed growth, congenital heart defects, and possible mental retardation. Deletion of the long arm of chromosome 4 with a variable phenotype consisting mainly of delayed psychomotor development, craniofacial anomalies, cardiovascular defects, skeletal abnormalities, occasional cleft palate, micrognathia, and glossoptosis (Pierre Robin sequence) and other disorders. Rieger anomaly (malformations of the anterior chamber of the eye and the teeth) occurs in some cases.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Chromosome 4, Monosomy 4q is a chromosomal disorder caused by a partial deletion of the long arm of chromosome 4.