Malformations in a child with dup (7 pter‐p15.1) and del (7 q36‐qter) as a result of familial pericentric inversion

Jeanette C. Ramer, Philip N. Mowrey, Roger L. Ladda

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

We describe a child with multiple anomalies and severe retardation with dup 7pter‐p15.1 and del 7q36‐qter as a result of a parental pericentric inversion of chromosome 7. The pericentric inversion was found in family members in 3 generations with 9 liveborn children who had severe anomalies probably associated with imbalances of chromosome 7.

Original languageEnglish (US)
Pages (from-to)442-450
Number of pages9
JournalClinical Genetics
Volume39
Issue number6
DOIs
StatePublished - Jun 1991

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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