Chromosome 5q deletion syndrome. 5q minus syndrome. Monosomy 5q syndrome.
Incidence
It is a very rare condition. Only 10 patients were described. Five of them had a de novo deletion.
Clinical Characteristics
Deletion 5q is defined as a deletion of the terminal part of the long arm of chromosome 5 (5q) including several bands. It is a very rare condition. Only 10 patients were described. Five of them had a de novo deletion. They all present with a variable degree of facial dysmorphism. Skull malformations, mild to severe developmental delay and cardiac defects have also been observed. Diagnosis is allowed by cytogenetic analysis of metaphase chromosomes obtained from peripheral blood or fibroblasts. Management of this disease is symptomatic. Deletion of the long arm of chromosome 5 with mental retardation and multiple abnormalities, usually frontal bossing, anteverted nostrils, brachycephaly, epicanthal folds, long deep philtrum, microretrognathia, and short neck. Additional defects are variable and may include hypertelorism, blepharophimosis, ear deformities, cleft palate, and other anomalies.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Deletion 5q is defined as a deletion of the terminal part of the long arm of chromosome 5 (5q) including several bands.