A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)].
This paper describes the clinical symptoms and cytogenetic findings in a patient previously described in a doctoral thesis (van Kempen, 1969). The patient is a boy with multiple congenital anomalies and a deletion of the long arm of chromosome 4. A recent Giemsa banding study showed absence of the terminal G-band, as was found in the patient described by Golbus  et al (1973). The symptoms and other data on the three patients known to have a deletion of the long arm of chromosome 4 are presented to facillitate comparison of these cases. However, the number of cases so far on record is too small to warrant conclusions on the basis of this comparison.
D000015:Abnormalities, Multiple; D000293:Adolescent; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002905:Chromosomes, Human, 4-5; D003878:Dermatoglyphics; D005347:Fibroblasts / Q000648:ultrastructure; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D010641:Phenotype; D012867:Skin / Q000166:cytology; D013194:Staining and Labeling