Monosomy 6q1: Syndrome delineation

Susan Sheley Romie, James K. Hartsfield, Maxine J. Sutcliffe, Doris P. Dumont, Boris G. Kousseff

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

We report on a girl with a de novo 6q1 interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-q15. We review the phenotype of monosomy 6q1. Our patient has manifestations similar to others with monosomy 6q1 including mental deficiency, growth retardation, short neck, and minor facial anomalies.

Original languageEnglish
Pages (from-to)105-108
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume62
Issue number2
DOIs
StatePublished - Mar 15 1996

Keywords

  • chromosome 6
  • dental fusion
  • gingival hypertrophy
  • interstitial deletion
  • mental retardation
  • multiple congenital anomalies

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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