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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Apr;30(4):330–331. doi: 10.1136/jmg.30.4.330

Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features.

U Trautmann 1, R A Pfeiffer 1, U Seufert-Satomi 1, H U Tietze 1
PMCID: PMC1016348  PMID: 8487285

Abstract

We report on a retarded infant with minor dysmorphic features in whom deletion 16 and duplication 19q were discovered. The karyotype is 46,XX,del(16) (q13.08-21.05),dup(19)(q13.13-13.2). The origin and significance of the aberrant chromosomes are unknown.

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Selected References

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  1. Boyd E., Grass F. S., Parke J. C., Knutson K., Stevenson R. E. Duplication of distal 19q: clinical report and review. Am J Med Genet. 1992 Feb 1;42(3):326–330. doi: 10.1002/ajmg.1320420314. [DOI] [PubMed] [Google Scholar]
  2. Casamassima A. C., Klein R. M., Wilmot P. L., Brenholz P., Shapiro L. R. Deletion of 16q with prolonged survival and unusual radiographic manifestations. Am J Med Genet. 1990 Dec;37(4):504–509. doi: 10.1002/ajmg.1320370414. [DOI] [PubMed] [Google Scholar]
  3. Crossen P. E. Variation in the centromeric banding of chromosome 19. Clin Genet. 1975 Sep;8(3):218–222. doi: 10.1111/j.1399-0004.1975.tb01497.x. [DOI] [PubMed] [Google Scholar]
  4. Edelhoff S., Maier B., Trautmann U., Pfeiffer R. A. Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation. Ann Genet. 1991;34(2):85–89. [PubMed] [Google Scholar]
  5. Elder F. F., Ferguson J. W., Lockhart L. H. Identical twins with deletion 16q syndrome: evidence that 16q12.2-q13 is the critical band region. Hum Genet. 1984;67(2):233–236. doi: 10.1007/BF00273010. [DOI] [PubMed] [Google Scholar]
  6. Friedrich U. Centromere heteromorphism in chromosome 19. Clin Genet. 1985 Oct;28(4):358–359. doi: 10.1111/j.1399-0004.1985.tb00412.x. [DOI] [PubMed] [Google Scholar]
  7. Fujiwara M., Yoshimoto T., Morita Y., Kamada M. Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome. Am J Med Genet. 1992 Jun 1;43(3):561–564. doi: 10.1002/ajmg.1320430311. [DOI] [PubMed] [Google Scholar]
  8. Lange M., Alfi O. S. Trisomy 19 q. Ann Genet. 1976 Mar;19(1):17–21. [PubMed] [Google Scholar]
  9. Naritomi K., Shiroma N., Izumikawa Y., Sameshima K., Ohdo S., Hirayama K. 16q21 is critical for 16q deletion syndrome. Clin Genet. 1988 May;33(5):372–375. doi: 10.1111/j.1399-0004.1988.tb03464.x. [DOI] [PubMed] [Google Scholar]
  10. Schmid W. Trisomy for the distal third of the long arm of chromosome 19 in brother and sister. Hum Genet. 1979 Feb 15;46(3):263–270. doi: 10.1007/BF00273309. [DOI] [PubMed] [Google Scholar]
  11. Yunis J. J., Ball D. W., Sawyer J. R. G-banding patterns of high-resolution human chromosomes 6--22, X, and Y. Hum Genet. 1979 Jul 18;49(3):291–306. doi: 10.1007/BF00569349. [DOI] [PubMed] [Google Scholar]

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