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J Med Genet. Apr 1982; 19(2): 155–157.
PMCID: PMC1048851

Partial deletion of the long arm of chromosome 4: a clinical syndrome

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. [PubMed]
  • Townes PL, White M, Di Marzo SV. 4q- syndrome. Am J Dis Child. 1979 Apr;133(4):383–385. [PubMed]
  • Golbus MS, Conte FA, Daentl DL. Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies. J Med Genet. 1973 Mar;10(1):83–85. [PMC free article] [PubMed]
  • 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]
  • 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. [PMC free article] [PubMed]
  • Frias JL, Nelson RM, Ray SL. Deletion of the long arm of chromosome 4: a clinically identifiable syndrome? Birth Defects Orig Artic Ser. 1978;14(6C):355–358. [PubMed]

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