Interstitial deletion of the long arm of chromosome no. 7 (7q‐) in an infant with multiple anomalies

Grant Higginson, David D. Weaver, R. Ellen Magenis, Gerald H. Prescott, Claudia Haag, Douglas J. Hepburn

Research output: Contribution to journalArticle

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An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low‐set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.

Original languageEnglish (US)
Pages (from-to)307-312
Number of pages6
JournalClinical Genetics
Issue number5
StatePublished - Nov 1976
Externally publishedYes


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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