Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases

R. S. Young, David Weaver, M. K. Kukolich, N. A. Heerema, C. G. Palmer, E. L. Kawira, H. A. Bender

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Sixteen cases of terminal deletions and 17 cases of interstitial deletions of the long arm of chromosome 7 have been reported to date. We present two new cases of the former and three of the latter. The somatic changes in these patients are tabulated and an update on the anomalies associated with the various cytogenetic entities is presented. Changes found in over one-third of patients with 7q terminal deletion syndrome include: developmental delay, pre- and postnatal growth retardation, generalized hypotonia, abnormal electroencephalograms with or without seizures, feeding problems in infancy, microcephaly, prominent forehead, ocular hypertelorism, eye defects, broad nasal bridge, bulbous nasal tip, auricular malformations, micrognathia, chest abnormalities, genital malformations in males, and abnormal palmar and plantar creases. Evidence for the localization of the Kidd blood group gene on chromosome 7 distal to band q32, as suggested by previous reports, is reviewed; we conclude that the evidence does not warrant placement of the gene in this region of the genome.

Original languageEnglish (US)
Pages (from-to)437-450
Number of pages14
JournalAmerican Journal of Medical Genetics
Volume17
Issue number2
StatePublished - 1984
Externally publishedYes

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Chromosomes, Human, Pair 7
Nose
Micrognathism
Hypertelorism
Microcephaly
Muscle Hypotonia
Forehead
Blood Group Antigens
Cytogenetics
Genes
Electroencephalography
Seizures
Thorax
Genome
Growth

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Young, R. S., Weaver, D., Kukolich, M. K., Heerema, N. A., Palmer, C. G., Kawira, E. L., & Bender, H. A. (1984). Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases. American Journal of Medical Genetics, 17(2), 437-450.

Terminal and interstitial deletions of the long arm of chromosome 7 : A review with five new cases. / Young, R. S.; Weaver, David; Kukolich, M. K.; Heerema, N. A.; Palmer, C. G.; Kawira, E. L.; Bender, H. A.

In: American Journal of Medical Genetics, Vol. 17, No. 2, 1984, p. 437-450.

Research output: Contribution to journalArticle

Young, RS, Weaver, D, Kukolich, MK, Heerema, NA, Palmer, CG, Kawira, EL & Bender, HA 1984, 'Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases', American Journal of Medical Genetics, vol. 17, no. 2, pp. 437-450.
Young, R. S. ; Weaver, David ; Kukolich, M. K. ; Heerema, N. A. ; Palmer, C. G. ; Kawira, E. L. ; Bender, H. A. / Terminal and interstitial deletions of the long arm of chromosome 7 : A review with five new cases. In: American Journal of Medical Genetics. 1984 ; Vol. 17, No. 2. pp. 437-450.
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