Deletions of the long arm of chromosome 6: Two new cases and review of the literature

R. S. Young, G. S. Fidone, P. A. Reider-Garcia, K. L. Hansen, J. L. McCombs, C. M. Moore

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Abstract

Seven terminal deletions and four interstitial deletions of 6q have been reported. We present the clinical and cytogenetic findings of these cases and of two new patients with different interstitial deletions of 6q. Although there are too few cases of interstitial deletions to identify one or more clinical syndromes associated with monosomes of the more proximal regions of 6q, a terminal 6q deletion syndrome is proposed. Its major components are microcephaly with mental retardation, strabismus, apparently low-set malformed ears, a broad nasal bridge, micrognathia, apparently short neck, congenital heart defect, abnormal palmar creases, and various hand abnormalities.

Original languageEnglish (US)
Pages (from-to)21-29
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume20
Issue number1
DOIs
StatePublished - Apr 4 1985

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Young, R. S., Fidone, G. S., Reider-Garcia, P. A., Hansen, K. L., McCombs, J. L., & Moore, C. M. (1985). Deletions of the long arm of chromosome 6: Two new cases and review of the literature. American Journal of Medical Genetics, 20(1), 21-29. https://doi.org/10.1002/ajmg.1320200105