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