• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. Apr 1982; 19(2): 155–157.
PMCID: PMC1048851

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


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

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (457K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

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]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • Cited in Books
    Cited in Books
    PubMed Central articles cited in books
  • PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...