The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes-Reference-Cited by-同舟云学术

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Published:2013-06-27 Issue:8 Volume:161 Page:1833-1852
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Curry Cynthia J.,Rosenfeld Jill A.¹,Grant Erica²,Gripp Karen W.³,Anderson Carol⁴,Aylsworth Arthur S.⁵,Saad Taha Ben⁶,Chizhikov Victor V.⁷,Dybose Giedre⁸,Fagerberg Christina⁹,Falco Michelle¹⁰,Fels Christina¹¹,Fichera Marco¹⁰,Graakjaer Jesper⁹,Greco Donatella¹⁰,Hair Jennifer¹²,Hopkins Elizabeth³,Huggins Marlene¹³,Ladda Roger¹³,Li Chumei¹⁴,Moeschler John¹⁵,Nowaczyk Malgorzata J.M.¹⁴,Ozmore Jillian R.¹⁵,Reitano Santina¹⁰,Romano Corrado¹⁰,Roos Laura¹⁶,Schnur Rhonda E.¹⁷,Sell Susan¹³,Suwannarat Pim¹⁸,Svaneby Dea⁹,Szybowska Marta¹⁴,Tarnopolsky Mark¹⁹,Tervo Raymond²⁰,Tsai Anne Chun-Hui²¹,Tucker Megan⁶,Vallee Stephanie¹⁵,Wheeler Ferrin C²²,Zand Dina J.²³,Barkovich A. James²⁴,Aradhya Swaroop²⁵,Shaffer Lisa G.¹,Dobyns William B.

Affiliation:

1. PerkinElmer, Inc; Signature Genomic Laboratories; Spokane; Washington

2. Genetic Medicine Central California; Fresno; California

3. Medical Genetics, DuPont Hospital for Children; Wilmington; Delware

4. Jefferson Medical College; Pennsylvania

5. Pediatrics and Genetics; University of North Carolina; Chapel Hill; North Carolina

6. St Vincent's Hospital; Indianapolis; Indiana

7. Center for Integrative Brain Research; Seattle Children's Research Institute; Seattle; Washington

8. Department of Pediatrics; Sydvestjysk Sygehus Hospital; Esbjerg; Denmark

9. Department of Clinical Genetics; Vejle Hospital; Vejle; Denmark

10. Oasi Institute; Troina; Italy

11. Integrated Genetics; Philadelphia; Pennsylvania

12. Kaiser Permanente; Gaithersburg; Maryland

13. Penn State Hershey Children's Hospital; Hershey; Pennsylvania

14. Department of Pediatrics; McMaster University; Hamilton; Ontario; Canada

15. Dartmouth Hitchcock Medical Center; Lebanon; New Hampshire

16. Kennedy Center; Glostrop; Denmark

17. Division of Genetics; Cooper Medical School of Rowan University; Camden; New Jersey

18. Kaiser Hospital; San Francisco; California

19. Neuromuscular and Neurometabolism Unit; McMaster University; Hamilton; Ontario; Canada

20. Gillette Children's Hospital; St. Paul; Minnesota

21. Molecular and Medical Genetics; Oregon Health Sciences University; Portland; Oregon

22. Pathology and Microbiology; Vanderbilt University; Nashville; Tennessee

23. Children's Hospital Medical Center; Washington; District of Columbia

24. Department of Radiology; University of California; San Francisco; California

25. GeneDx; Gaithersburg; Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35996/fullpdf

Reference27 articles.

1. Myo1c mutations associated with hearing loss cause defects in the interaction with nucleotide and actin;Adamek;Cell Mol Life Sci,2011

2. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation;Aldinger;Nat Genet,2009

3. 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD);Armour;Eur J Hum Genet,2011

4. Increased LIS1 expression affects human and mouse brain development;Bi;Nat Genet,2009

5. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes;Bruno;J Med Genet,2010

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