Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33.
A 10-year-old boy with developmental delay, craniofacial dysmorphia, malformations of the hands and feet and a cardiac malformation was found to have a small deletion of the distal region (q33 leads to qter) of the long arm of a chromosome 4. The clinical findings in this case are compared with those of a 17-week-old girl recently found to have the same deletion. Two additional patients with similar small deletions have been described in the literature. The similarity among the cases suggests the possibility of a deletion (4) (q33) syndrome. The major features of the syndrome are similar to those of larger deletions of the long arm of chromosome 4 and include mental and growth retardation, craniofacial dysmorphia including upslanting palpebral fissures, depressed nasal bridge, anteverted nares, abnormally shaped ears and micrognathia, and cardiac defects.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D003394:Craniofacial Dysostosis / Q000235:genetics; D003878:Dermatoglyphics; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D013577:Syndrome