Abstract
Partial deletion of the long arm of chromosome 4 at q31 results in a clinical syndrome of mental retardation, characteristic ears, facial bone hypoplasia, cleft palate very prone to scarring on repair, and specific hand abnormalities. A female, aged 9 years, is described and compared with six other reported cases.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Ferrier S., Freund M. A propos d'un cas de délétion du bras long du chromosome B4 (B4q-) Arch Genet (Zur) 1974;47(1):16–26. [PubMed] [Google Scholar]
- Frias J. L., Nelson R. M., Ray S. L. Deletion of the long arm of chromosome 4: a clinically identifiable syndrome? Birth Defects Orig Artic Ser. 1978;14(6C):355–358. [PubMed] [Google Scholar]
- Golbus M. S., Conte F. A., Daentl D. L. Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies. J Med Genet. 1973 Mar;10(1):83–85. doi: 10.1136/jmg.10.1.83. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kempen C. A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)]. J Med Genet. 1975 Jun;12(2):204–207. doi: 10.1136/jmg.12.2.204. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. doi: 10.1016/s0140-6736(71)90287-x. [DOI] [PubMed] [Google Scholar]
- Townes P. L., White M., Di Marzo S. V. 4q- syndrome. Am J Dis Child. 1979 Apr;133(4):383–385. doi: 10.1001/archpedi.1979.02130040037008. [DOI] [PubMed] [Google Scholar]