Mild "duplication 6q syndrome": A case with partial trisomy (6)(q23.3q25.3)

Octavian Henegariu, Nyla A. Heerema, Gail H. Vance

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

We report on a female infant with partial 6q trisomy (46,XX,dir dup(6)(q23.3q25.3)) and phenotypic characteristics of the 'duplication 6q syndrome,' including intrauterine growth retardation, dolichocephaly, depressed nasal bridge, almond-shaped palpebral fissures, short neck, flexion-contractures of the wrists, and mild generalized hypertonia. Although clearly belonging to the described 'duplication 6q syndrome,' her features were milder than those found in the literature. Comparison of the phenotype of this child with other published reports indicates that specific phenotypic components of the duplication 6q syndrome cannot be attributed to duplication of a specific band or bands on 6q.

Original languageEnglish (US)
Pages (from-to)450-454
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume68
Issue number4
DOIs
StatePublished - Feb 11 1997

Keywords

  • chromosome 6
  • duplication 6q syndrome
  • flexion contractures
  • growth retardation

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Mild "duplication 6q syndrome": A case with partial trisomy (6)(q23.3q25.3)'. Together they form a unique fingerprint.

  • Cite this