Interstitial duplication of 7(q22→q34)

R. F. Stratton, B. R. DuPont, V. L. Mattern, Robert Schelonka, C. M. Moore

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

We report on a 3-year-old boy with an interstitial duplication of 7(q22→q34), confirmed with fluorescent in-situ hybridization. He had post- natal growth retardation, developmental delay, frontal and parietal bossing, deep-set eyes, strabismus, bilateral optic nerve hypoplasia, and mild dilatation of the cerebral ventricles. His phenotype was not significantly different from that of the three previously reported patients with interstitial duplication of the smaller segment 7(q22→q31).

Original languageEnglish (US)
Pages (from-to)380-382
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume47
Issue number3
StatePublished - 1993
Externally publishedYes

Fingerprint

Cerebral Ventricles
Strabismus
Fluorescence In Situ Hybridization
Dilatation
Phenotype
Growth
Bilateral Optic Nerve Hypoplasia

Keywords

  • 7q22→q34
  • duplication
  • interstitial
  • long arm

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Stratton, R. F., DuPont, B. R., Mattern, V. L., Schelonka, R., & Moore, C. M. (1993). Interstitial duplication of 7(q22→q34). American Journal of Medical Genetics, 47(3), 380-382.

Interstitial duplication of 7(q22→q34). / Stratton, R. F.; DuPont, B. R.; Mattern, V. L.; Schelonka, Robert; Moore, C. M.

In: American Journal of Medical Genetics, Vol. 47, No. 3, 1993, p. 380-382.

Research output: Contribution to journalArticle

Stratton, RF, DuPont, BR, Mattern, VL, Schelonka, R & Moore, CM 1993, 'Interstitial duplication of 7(q22→q34)', American Journal of Medical Genetics, vol. 47, no. 3, pp. 380-382.
Stratton RF, DuPont BR, Mattern VL, Schelonka R, Moore CM. Interstitial duplication of 7(q22→q34). American Journal of Medical Genetics. 1993;47(3):380-382.
Stratton, R. F. ; DuPont, B. R. ; Mattern, V. L. ; Schelonka, Robert ; Moore, C. M. / Interstitial duplication of 7(q22→q34). In: American Journal of Medical Genetics. 1993 ; Vol. 47, No. 3. pp. 380-382.
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