Deletion of a portion of the long arm of chromosome 6.
We describe a 3-year-old male with deletion of part of 6q. The karyotype was 46,XY,del(6q) in both lymphocytes and skin fibroblasts. The patient had: frontal bossing, epicanthal folds, broad nasal bridge, apparently low-set and posteriorly angulated ears, micrognathia, cardiac defects, cleft palate, unusual digital anomalies, developmental retardation, and obstructive sleep apnea.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D010641:Phenotype; D012867:Skin / Q000648:ultrastructure; D012891:Sleep Apnea Syndromes / Q000235:genetics*; D013577:Syndrome