Literature DB >> 27617114

A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome.

Devin M Cox1, Merlin G Butler1.   

Abstract

We report a 14-year-old Hispanic male with a microduplication of the chromosome 7p22.2 band detected through microarray analysis. He had a history of developmental delay and mild intellectual disability, asthma, myopia, proportionate short stature, dysmorphic features, and Achilles tendon release. This appears to be the first report of a patient with a microduplication of only the chromosome 7p22.2 band and is now the smallest reported duplication to date to include features in common with the chromosome 7p22 duplication syndrome.

Entities:  

Keywords:  7p22.2 duplication; dysmorphic features; microarray analysis; mild intellectual disability

Year:  2015        PMID： 27617114      PMCID： PMC4906420          DOI： 10.1055/s-0035-1554980

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  6 in total

Review 1.  A report of pure 7p duplication syndrome and review of the literature.

Authors:  E Papadopoulou; S Sifakis; C Sarri; J Gyftodimou; T Liehr; K Mrasek; M Kalmanti; M B Petersen
Journal:  Am J Med Genet A       Date:  2006-12-15       Impact factor: 2.802

2.  A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.

Authors:  A T Vulto-van Silfhout; A F M de Brouwer; N de Leeuw; C C Obihara; H G Brunner; B B A de Vries
Journal:  Mol Syndromol       Date:  2012-02-10

3.  Clinical and molecular characterization of a second case of 7p22.1 microduplication.

Authors:  Egle Preiksaitiene; Jurate Kasnauskiene; Zivile Ciuladaite; Birute Tumiene; Philippos C Patsalis; Vaidutis Kučinskas
Journal:  Am J Med Genet A       Date:  2012-04-11       Impact factor: 2.802

4.  Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.

Authors:  Jacqueline V Chui; James D Weisfeld-Adams; James Tepperberg; Lakshmi Mehta
Journal:  Am J Med Genet A       Date:  2011-10       Impact factor: 2.802

5.  Sidekicks: synaptic adhesion molecules that promote lamina-specific connectivity in the retina.

Authors:  Masahito Yamagata; Joshua A Weiner; Joshua R Sanes
Journal:  Cell       Date:  2002-09-06       Impact factor: 41.582

6.  DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Authors:  Helen V Firth; Shola M Richards; A Paul Bevan; Stephen Clayton; Manuel Corpas; Diana Rajan; Steven Van Vooren; Yves Moreau; Roger M Pettett; Nigel P Carter
Journal:  Am J Hum Genet       Date:  2009-04-02       Impact factor: 11.025
  6 in total
  2 in total

1.  Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier.

Authors:  Jess F Peterson; Gabrielle C Geddes; Donald G Basel; Dana Schippman; John W Grignon; Peter vanTuinen; Ulrike P Kappes
Journal:  J Pediatr Genet       Date:  2017-08-14

2.  Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Authors:  Amal M Mohamed; Alaa K Kamel; Maha M Eid; Ola M Eid; Mona Mekkawy; Shymaa H Hussein; Maha S Zaki; Samira Esmail; Hanan H Afifi; Ghada Y El-Kamah; Ghada A Otaify; Heba Ahmed El-Awady; Aya Elaidy; Mahmoud Y Essa; Mona El-Ruby; Engy A Ashaat; Saida A Hammad; Inas Mazen; Ghada M H Abdel-Salam; Mona Aglan; Samia Temtamy
Journal:  Mol Genet Genomic Med       Date:  2021-10-05       Impact factor: 2.183
  2 in total

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