Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1988 Jun;25(6):427–429. doi: 10.1136/jmg.25.6.427

Translocation (1;22) in a child with bilateral oblique facial clefts.

M Dasouki 1, M Barr Jr 1, R P Erickson 1, B Cox 1
PMCID: PMC1050514  PMID: 3398011

Abstract

An eight month old girl was born with symmetrical bilateral oblique facial clefts and calcaneovarus foot deformity. CT scan of the head showed severe bilateral ocular hypoplasia and normal brain parenchyma. Peripheral blood karyotype showed a de novo balanced translocation between a chromosome 1 and 22. A submicroscopic imbalance secondary to this translocation cannot be ruled out. The pattern of the observed anomalies will help distinguish between oblique facial clefts and amniotic band disruption. Chromosomal studies should be performed in children with such rare malformations.

Full text

PDF
428

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Boo-Chai K. The oblique facial cleft. A report of 2 cases and a review of 41 cases. Br J Plast Surg. 1970 Oct;23(4):352–359. doi: 10.1016/s0007-1226(70)80074-1. [DOI] [PubMed] [Google Scholar]
  2. Funderburk S. J., Spence M. A., Sparkes R. S. Mental retardation associated with "balanced" chromosome rearrangements. Am J Hum Genet. 1977 Mar;29(2):136–141. [PMC free article] [PubMed] [Google Scholar]
  3. HARKINS C. S., BERLIN A., HARDING R. L., LONGACRE J. J., SNODGRASSE R. M. A classification of cleft lip and cleft palate. Plast Reconstr Surg Transplant Bull. 1962 Jan;29:31–39. doi: 10.1097/00006534-196201000-00005. [DOI] [PubMed] [Google Scholar]
  4. Jones K. L., Smith D. W., Hall B. D., Hall J. G., Ebbin A. J., Massoud H., Golbus M. S. A pattern of craniofacial and limb defects secondary to aberrant tissue bands. J Pediatr. 1974 Jan;84(1):90–95. doi: 10.1016/s0022-3476(74)80559-7. [DOI] [PubMed] [Google Scholar]
  5. Kubácek V., Penkava J. Oblique clefts of the face. Acta Chir Plast. 1974;16(3):152–163. [PubMed] [Google Scholar]
  6. NELSON M. M., WRIGHT H. V., ASLING C. W., EVANS H. M. Multiple congenital abnormalities resulting from transitory deficiency of pteroylglutamic acid during gestation in the rat. J Nutr. 1955 Jul 11;56(3):349–369. doi: 10.1093/jn/56.3.349. [DOI] [PubMed] [Google Scholar]
  7. Sano S., Tani T., Nishimura Y. Bilateral oblique facial cleft. Ann Plast Surg. 1983 Nov;11(5):434–437. doi: 10.1097/00000637-198311000-00013. [DOI] [PubMed] [Google Scholar]
  8. Stark R. B. Development of the face. Surg Gynecol Obstet. 1973 Sep;137(3):403–408. [PubMed] [Google Scholar]
  9. WARKANY J., TAKACS E. Experimental production of congenital malformations in rats by salicylate poisoning. Am J Pathol. 1959 Mar-Apr;35(2):315–331. [PMC free article] [PubMed] [Google Scholar]

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

RESOURCES