Skip to main content

Partial duplication of 4q12q13 leads to a mild phenotype.

Publication ,  Journal Article
Shashi, V; Berry, MN; Santos, C; Pettenati, MJ
Published in: Am J Med Genet
September 3, 1999

We report on the second case of duplication (4)(q12q13) with microcephaly, mental retardation, and minor facial anomalies. Duplications involving the distal region of chromosome 4q are well described and share common clinical findings. However, phenotypic abnormalities of duplications of the proximal portion of chromosome 4q are relatively unknown. A comparison of the clinical manifestations of our patient and the single published case suggests that the phenotype of this proximal 4q duplication is relatively mild. This study emphasizes the need to perform chromosome analysis in similar mildly affected/nonspecific cases.

Duke Scholars

Published In

Am J Med Genet

ISSN

0148-7299

Publication Date

September 3, 1999

Volume

86

Issue

1

Start / End Page

51 / 53

Location

United States

Related Subject Headings

  • Phenotype
  • Middle Aged
  • Microcephaly
  • Male
  • Karyotyping
  • Intellectual Disability
  • Humans
  • Gene Duplication
  • Female
  • Face
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Shashi, V., Berry, M. N., Santos, C., & Pettenati, M. J. (1999). Partial duplication of 4q12q13 leads to a mild phenotype. Am J Med Genet, 86(1), 51–53.
Shashi, V., M. N. Berry, C. Santos, and M. J. Pettenati. “Partial duplication of 4q12q13 leads to a mild phenotype.Am J Med Genet 86, no. 1 (September 3, 1999): 51–53.
Shashi V, Berry MN, Santos C, Pettenati MJ. Partial duplication of 4q12q13 leads to a mild phenotype. Am J Med Genet. 1999 Sep 3;86(1):51–3.
Shashi, V., et al. “Partial duplication of 4q12q13 leads to a mild phenotype.Am J Med Genet, vol. 86, no. 1, Sept. 1999, pp. 51–53.
Shashi V, Berry MN, Santos C, Pettenati MJ. Partial duplication of 4q12q13 leads to a mild phenotype. Am J Med Genet. 1999 Sep 3;86(1):51–53.

Published In

Am J Med Genet

ISSN

0148-7299

Publication Date

September 3, 1999

Volume

86

Issue

1

Start / End Page

51 / 53

Location

United States

Related Subject Headings

  • Phenotype
  • Middle Aged
  • Microcephaly
  • Male
  • Karyotyping
  • Intellectual Disability
  • Humans
  • Gene Duplication
  • Female
  • Face