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 journalArticlepeer-review

26 Scopus citations

Abstract

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
Volume10
Issue number5
DOIs
StatePublished - Nov 1976
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Interstitial deletion of the long arm of chromosome no. 7 (7q‐) in an infant with multiple anomalies'. Together they form a unique fingerprint.

Cite this