Abstract
An infant with the syndrome of deletion of the short arm of chromosome 4 is described. In addition, this child had renal insufficiency, which is found rarely in association with the 4p(--) syndrome. Previous reports of this syndrome have described only isolated gross structural abnormalites of the urinary tract. In the case discussed here, we present clinical and functional data which indicate that this patient had bilateral renal dysplasia.
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- Fryns J. P., Eggermont E., Verresen H., Van den Berghe H. The 4p-syndrome, with a report of two new cases. Humangenetik. 1973;19(1):99–109. doi: 10.1007/BF00295238. [DOI] [PubMed] [Google Scholar]
- Giorgi P. L., Ceccarelli M., Paci A. Su un caso di sindrome del "cri du chat" con peculiari anomalie fenotipiche. Minerva Pediatr. 1965 Dec 15;17(39):1972–1975. [PubMed] [Google Scholar]
- Kerpel-Fronius E., Heim T., Sulyok E. The development of the renal acidifying processes and their relation to acidosis in low-birth-weight infants. Biol Neonate. 1970;15(34):156–168. doi: 10.1159/000240222. [DOI] [PubMed] [Google Scholar]
- Taylor A. I., Challacombe D. N., Howlett R. M. Short-arm deletion, chromosome 4, (4p-), a syndrome? Ann Hum Genet. 1970 Oct;34(2):137–144. doi: 10.1111/j.1469-1809.1970.tb00227.x. [DOI] [PubMed] [Google Scholar]
- Wilcock A. R., Adams F. G., Cooke P., Gordon R. R. Deletion of short arm of no. 4 (4p-)--a detailed case report. J Med Genet. 1970 Jun;7(2):171–176. doi: 10.1136/jmg.7.2.171. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wolf U., Reinwein H., Porsch R., Schröter R., Baitsch H. Defizienz an den kuzen Armen eins Chromosoms Nr. 4. Humangenetik. 1965;1(5):397–413. [PubMed] [Google Scholar]