Case Reports
doi: 10.1002/ajmg.a.31511.
A patient with duplication (7)(p22.1pter) characterized by array-CGH
Affiliations
- PMID: 17163527
- DOI: 10.1002/ajmg.a.31511
Item in Clipboard
Case Reports
A patient with duplication (7)(p22.1pter) characterized by array-CGH
Am J Med Genet A.
.
Abstract
Approximately 40 patients with terminal duplication of the distal short arm of chromosome 7 have been reported, the smallest being dup(7)(p21). We report here on a patient with a smaller duplication, dup(7)(p22.1), detected on G-banding and characterized by array-CGH. We establish phenotype-karyotype correlations with the reported patients with other 7p duplications.
(c) 2006 Wiley-Liss, Inc
Similar articles
-
A report of pure 7p duplication syndrome and review of the literature.Am J Med Genet A. 2006 Dec 15;140(24):2802-6. doi: 10.1002/ajmg.a.31538. Am J Med Genet A. 2006. PMID: 17103460 Review.
-
Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.Am J Med Genet A. 2005 Jun 15;135(3):308-13. doi: 10.1002/ajmg.a.30613. Am J Med Genet A. 2005. PMID: 15887264 Review.
-
Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype.Am J Med Genet A. 2008 Jan 1;146A(1):110-5. doi: 10.1002/ajmg.a.32059. Am J Med Genet A. 2008. PMID: 18074369
-
Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.J Med Genet. 2000 Oct;37(10):804-7. doi: 10.1136/jmg.37.10.804. J Med Genet. 2000. PMID: 11183189 Free PMC article. No abstract available.
-
Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.Am J Med Genet A. 2011 Oct;155A(10):2508-11. doi: 10.1002/ajmg.a.34180. Am J Med Genet A. 2011. PMID: 21998864
Cited by
-
7p22.2 Microduplication: A Pathogenic CNV?Genes (Basel). 2023 Jun 19;14(6):1292. doi: 10.3390/genes14061292. Genes (Basel). 2023. PMID: 37372471 Free PMC article.
-
Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1.Case Rep Genet. 2018 Feb 11;2018:1513534. doi: 10.1155/2018/1513534. eCollection 2018. Case Rep Genet. 2018. PMID: 29610688 Free PMC article.
-
Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.Case Rep Genet. 2015;2015:212436. doi: 10.1155/2015/212436. Epub 2015 Mar 29. Case Rep Genet. 2015. PMID: 25893121 Free PMC article.
-
Clinical and genetic analysis of a female child with duplications at 7p22.3p22.1 and Xp22.31p21.1: A case report.Medicine (Baltimore). 2025 Feb 7;104(6):e41452. doi: 10.1097/MD.0000000000041452. Medicine (Baltimore). 2025. PMID: 39928819 Free PMC article.
-
De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism.Sultan Qaboos Univ Med J. 2015 Aug;15(3):e415-9. doi: 10.18295/squmj.2015.15.03.018. Epub 2015 Aug 24. Sultan Qaboos Univ Med J. 2015. PMID: 26357560 Free PMC article.
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
