Literature DB >> 1621758

Craniosynostosis associated with partial duplication of 15q and deletion of 2q.

M I Van Allen1, J Siegel-Bartelt, A Feigenbaum, I E Teshima.   

Abstract

We report on an infant with multiple congenital anomalies including complex craniosynostosis associated with an unbalanced karyotype, 46,XY,-2,+der(2),t(2;15)(q37;q26)pat. The previous report of a child with cloverleaf skull and partial duplication of 15q25----qter and the Man-on-Mouse Homology map suggests that a critical segment for synostosis of sutures may be in this region.

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Year:  1992        PMID： 1621758     DOI： 10.1002/ajmg.1320430407

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

Authors:  D Wieczorek; H Engels; R Viersbach; B Henke; G Schwanitz; E Passarge
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

2.  A case of de novo duplication of 15q24-q26.3.

Authors:  Eun Young Kim; Yu Kyong Kim; Mi Kyoung Kim; Ji Mi Jung; Ga Won Jeon; Hye Ran Kim; Jong Beom Sin
Journal:  Korean J Pediatr       Date:  2011-06-30

3.  IGF1R variants associated with isolated single suture craniosynostosis.

Authors:  Michael L Cunningham; Jeremy A Horst; Mark J Rieder; Anne V Hing; Ian B Stanaway; Sarah S Park; Ram Samudrala; Matthew L Speltz
Journal:  Am J Med Genet A       Date:  2011-01       Impact factor: 2.802

Review 4.  Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

Authors:  Wanda Lattanzi; Nenad Bukvic; Marta Barba; Gianpiero Tamburrini; Camilla Bernardini; Fabrizio Michetti; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

5.  Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.

Authors:  Minjie Luo; Surabhi Mulchandani; Holly A Dubbs; Daniel Swarr; Louise Pyle; Elaine H Zackai; Nancy B Spinner; Laura K Conlin
Journal:  Am J Med Genet A       Date:  2015-07-21       Impact factor: 2.802

6.  Transcriptome correlation analysis identifies two unique craniosynostosis subtypes associated with IRS1 activation.

Authors:  B D Stamper; B Mecham; S S Park; H Wilkerson; F M Farin; R P Beyer; T K Bammler; L M Mangravite; M L Cunningham
Journal:  Physiol Genomics       Date:  2012-10-16       Impact factor: 3.107

7.  Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function.

Authors:  Rossella Cannarella; Teresa Mattina; Rosita A Condorelli; Laura M Mongioì; Giuseppe Pandini; Sandro La Vignera; Aldo E Calogero
Journal:  Endocr Connect       Date:  2017-10       Impact factor: 3.335
  7 in total

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