Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect.

Abstract

We describe a family carrying a direct duplication of an interstitial segment of the distal long arm of chromosome 4(q31.1q32.3) with a mild clinical phenotype. Affected family members include a 27-year-old woman and 2 of her 4 children, 1 of whom also has Klinefelter syndrome. Although 8 cases of simple duplications or insertions of 4q material have been described, only 3 include bands q31-q32, and these involve additional adjacent material. Affected members of the pedigree reported here have some of the manifestations of previously described cases of duplication 4q, but are less severely affected, suggesting that the genetic material in this region is well tolerated as a partial trisomy.

• Authors: B K Goodman, G T Capone, J Hennessey, G H Thomas
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 73 Issue 2 Pg. 119-24 (Dec 12 1997) ISSN: 0148-7299 [Print] United States
• PMID: 9409859 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Child
• Child, Preschool
• Chromosome Aberrations (genetics)
• Chromosome Banding
• Chromosome Disorders
• Chromosomes, Human, Pair 4 (genetics)
• Developmental Disabilities (genetics)
• Female
• Humans
• Infant
• Male
• Pedigree
• Phenotype
• Trisomy (genetics)