Literature DB >> 18080323

Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.

Raveen Shahdadpuri1, Bert de Vries, Rolph Pfundt, Nicole de Leeuw, William Reardon.   

Abstract

Congenital pseudoarthrosis of the clavicle (CPC) has been described in several genetic conditions including Floating-Harbor and Goltz syndromes, but rarely as a prompt to specific cytogenetic abnormalities. We report on a case of a de novo 10p11.21p12.1 microdeletion in a boy with multiple problems including a beaten copper appearance of the cranium on skull X-ray and pseudoarthrosis of the right clavicle. This is the first description of these particular skeletal findings in the context of a chromosome 10p deletion. (c) 2007 Wiley-Liss, Inc.

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Year:  2008        PMID： 18080323     DOI： 10.1002/ajmg.a.32088

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  7 in total

1.  Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Authors:  Elizabeth Goldmuntz; Prasuna Paluru; Joseph Glessner; Hakon Hakonarson; Jaclyn A Biegel; Peter S White; Xiaowu Gai; Tamim H Shaikh
Journal:  Congenit Heart Dis       Date:  2011-10-20       Impact factor: 2.007

2.  Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31.

Authors:  Simona Sosoi; Ioana Streata; Stefania Tudorache; Florin Burada; Mirela Siminel; Nicolae Cernea; Mihai Ioana; Dominic Gabriel Iliescu; Francisc Mixich
Journal:  J Hum Genet       Date:  2015-02-05       Impact factor: 3.172

3.  DeSanto-Shinawi Syndrome: First Case in South America.

Authors:  Sara Vanegas; Diana Ramirez-Montaño; Estephania Candelo; Marwan Shinawi; Harry Pachajoa
Journal:  Mol Syndromol       Date:  2018-04-28

4.  Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Authors:  Christian Wentzel; Evica Rajcan-Separovic; Claudia A L Ruivenkamp; Sandra Chantot-Bastaraud; Corinne Metay; Joris Andrieux; Göran Annerén; Antoinet C J Gijsbers; Luc Druart; Capucine Hyon; Marie-France Portnoi; Eva-Lena Stattin; Catherine Vincent-Delorme; Sarina G Kant; Michelle Steinraths; Sandrine Marlin; Irina Giurgea; Ann-Charlotte Thuresson
Journal:  Eur J Hum Genet       Date:  2011-04-27       Impact factor: 4.246

5.  De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

Authors:  Dorien Lugtenberg; Margot R F Reijnders; Michaela Fenckova; Emilia K Bijlsma; Raphael Bernier; Bregje W M van Bon; Eric Smeets; Anneke T Vulto-van Silfhout; Danielle Bosch; Evan E Eichler; Heather C Mefford; Gemma L Carvill; Ernie M H F Bongers; Janneke Hm Schuurs-Hoeijmakers; Claudia A Ruivenkamp; Gijs W E Santen; Arn M J M van den Maagdenberg; Cacha M P C D Peeters-Scholte; Sabine Kuenen; Patrik Verstreken; Rolph Pfundt; Helger G Yntema; Petra F de Vries; Joris A Veltman; Alexander Hoischen; Christian Gilissen; Bert B A de Vries; Annette Schenck; Tjitske Kleefstra; Lisenka E L M Vissers
Journal:  Eur J Hum Genet       Date:  2016-01-13       Impact factor: 4.246

6.  Rapid progression of aortic stenosis in a 3-month-old infant with bicuspid aortic valve and DeSanto-Shinawi syndrome.

Authors:  Daiji Takajo; Ghadir Katato; Sanjeev Aggarwal
Journal:  Ann Pediatr Cardiol       Date:  2021-03-26

7.  Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.

Authors:  Cristina Toledo-Gotor; Cristina García-Muro; Alberto García-Oguiza; Mª Luisa Poch-Olivé; Mª Yolanda Ruiz-Del Prado; Elena Domínguez-Garrido
Journal:  Mol Genet Genomic Med       Date:  2022-03-10       Impact factor: 2.473
  7 in total

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