Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome-Reference-Cited by-同舟云学术

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

Published:2016-01-18 Issue:4 Volume:170 Page:908-917
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Watanabe Satoshi¹²,Shimizu Kenji³,Ohashi Hirofumi³,Kosaki Rika⁴,Okamoto Nobuhiko⁵,Shimojima Keiko⁶,Yamamoto Toshiyuki⁶,Chinen Yasutsugu⁷,Mizuno Seiji⁸,Dowa Yuri⁹,Shiomi Natsuko¹⁰,Toda Yoshihiro¹¹,Tashiro Katsuya¹²,Shichijo Koichi¹³,Minatozaki Kazunori¹⁴,Aso Seijiro¹⁵,Minagawa Kyoko¹⁶,Hiraki Yoko¹⁷,Shimokawa Osamu²,Matsumoto Tadashi¹¹⁸,Fukuda Masafumi¹⁸,Moriuchi Hiroyuki¹,Yoshiura Koh-ichiro²,Kondoh Tatsuro¹¹⁸

Affiliation:

1. Department of Pediatrics; Nagasaki University Graduate School of Biomedical Sciences; Nagasaki Japan

2. Department of Human Genetics; Nagasaki University Graduate School of Biomedical Sciences; Nagasaki Japan

3. Division of Medical Genetics; Saitama Children's Medical Center; Saitama Japan

4. Division of Medical Genetics; National Center for Child Health and Development; Tokyo Japan

5. Department of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Osaka Japan

6. Tokyo Women's Medical University Institute for Integrated Medical Sciences; Tokyo Japan

7. Department of Pediatrics; Faculty of Medicine, University of the Ryukyus; Okinawa Japan

8. Department of Pediatrics; Central Hospital, Aichi Human Service Center; Aichi Japan

9. Department of Pediatrics; Hyogo Prefectural Tsukaguchi Hospital; Hyogo Japan

10. Department of Pediatrics; Yodogawa Christian Hospital; Osaka Japan

11. Department of Pediatrics; Graduate School of Medical Sciences, Tokushima University; Tokushima Japan

12. Department of Pediatrics; Faculty of Medicine, Saga University; Saga Japan

13. Department of Pediatrics; Tokushima Red Cross Hospital; Tokushima Japan

14. Department of Pediatrics; Hiroshima-nishi Medical Center; Hiroshima Japan

15. Department of Pediatrics; Japanese Red Cross Medical Center; Tokyo Japan

16. Department of Pediatrics; Hyogo College of Medicine; Hyogo Japan

17. Hiroshima Municipal Center for Child Health and Development; Hiroshima Japan

18. Misakaenosono Mutsumi Developmental, Medical, and Welfare Center; Nagasaki Japan

Funder

Incorporated Nonprofit Organization Saga Intractable Diseases Support Network

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37496/fullpdf

Reference15 articles.

1. Inverted duplication of 1q32. 1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy;Balasubramanian;Am J Med Genet A,2009

2. Supernumerary der(1) marker chromosome derived from a ring chromosome one which has retained the original centromere and euchromatin from 1q21. 1→ q21. 3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay;Barbi;Am J Med Genet A,2005

3. De novo dir dup (1)(q3200-4200) in an adult. Further delineation of the pure 1q trisomy syndrome;Barros-Nunez;Ann Genet,1989

4. Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): Further delineation of trisomies 1q;Bartsch;Fetal Diagn Ther,2001

5. Methods and strategies for analyzing copy number variation using DNA microarrays;Carter;Nat Genet,2007

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