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CongenitalA nomalies
THE JAPANESE TERATOLOGY SOCIETY
Vol.56 No.3 2016Congenit Anom
ISSN 0914-3505
CONGENITAL ANOMALIES
Volume 56 · Number 3 · May 2016
CONTENTS Invited Mini Review
Integrated care for Down syndrome 104 Ni-Chung Lee, Yin-Hsiu Chien, and Wuh-Liang Hwu
Original ArticlesReliability and validity of the March of dimes preconception/prenatal family health history questionnaire: The Persian version 107
Hossein Mashhadi Abdolahi, Mohammad Hassan Kargar Maher, Majid Karamouz, Hossein Khosroshahi, and Saeed Dastgiri
Extraction of DNA from human embryos after long-term preservation in formalin and Bouin's solutions 112 Momoko Nagai, Katsura Minegishi, Munekazu Komada, Maiko Tsuchiya, Tomomi Kameda, and Shigehito Yamada
Spectrum of urorectal septum malformation sequence 119 Krupa Shah, Shalini S. Nayak, Anju Shukla, and Katta M. Girisha
Interkinetic nuclear migration in the mouse embryonic ureteric epithelium: Possible implication for congenital anomalies of the kidney and urinary tract 127
Tomoyuki Motoya, Noriko Ogawa, Tetsuya Nitta, Ashiq Mahmood Rafiq, Esrat Jahan, Motohide Furuya, Akihiro Matsumoto, Jun Udagawa, and Hiroki Otani
Short Communication Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly 135
Fatma Bastaki, Madiha Mohamed, Pratibha Nair, Fatima Saif, Nafisa Tawfiq, Gururaj Aithala, Majdi El-Halik, Mahmoud Al-Ali, and Abdul Rezzak Hamzeh
Case Report Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia 138
Andres Felipe Ramirez-Botero, Sabrina Eichler, Arndt Rolfs, and Harry Pachajoa
Congenital AnomaliesThe Offi cial Journal of the Japanese Teratology Society
Editor-in-ChiefYuji Nakajima, Osaka
Associate EditorsHiroaki Aoyama, Joso Toshihisa Hatta, Uchinada Kenji Kurosawa, Yokohama
Managing EditorToshiyuki Yamagishi, Osaka
Editorial Board
Editors Emeritus
Nigel A. Brown, LondonChiristina D. Chambers, San DiegoRobert E. Chapin, GrotonMakoto Ema, TsukubaYoshihiro Fukui, TokushimaJohn M. Graham, Jr., Los AngelesFumiki Hirahara, YokohamaLewis B. Holmes, BostonSachiko Iseki, TokyoHan-Sung Jung, SeoulKenjiro Kosaki, TokyoSusan L. Makris, Washington, DC
Masashi Mizuguchi, TokyoMaximilian Muenke, BethesdaTetsuji Nagao, HigashiosakaTsuyoshi Nakanishi, GifuIchiro Naruse, YonagoTetsuo Ogawa, TokyoToshihiko Ogino, YamagataNobuhiko Okamoto, OsakaHiroki Otani, IzumoRengasamy Padmanabhan, MaconElisabeth Robert, LyonKohei Shiota, Otsu
Shinichi Sonta, NagoyaDonald G. Stump, AshlandTomoyuki Takano, OtsuJun Udagawa, OtsuToshiaki Watanabe, HimejiGen Yamada, WakayamaHideto Yamada, KobeMasako Yamamoto, SagamiharaToshiyuki Yamamoto, TokyoMichiko Yamanaka, TokyoAtsushi Yoshiki, Tsukuba
Ujihiro Murakami (1963–1975), Yoshiro Kameyama (1976–1989), Mineo Yasuda (1990–1999),Yoshihiro Tsutsui (2000–2006)
AIMS AND SCOPECongenital Anomalies is the official Journal of the Japanese Teratology Society. The object of the Journal is to promote research on developmental abnormalities and propagate knowledge concerning this problem as a contri-bution to human welfare. Congenital Anomalies publishes reports of studies in any area of abnormal development and related fi elds. The Journal aims to promote the broad exchange of novel results in research and encourages authors from all countries to submit papers. Although contributions by members of teratology societies affiliated with The International Federation of Teratology Societies (IFTS) are given priority, contributions from non-members are also welcomed.
EDITORIAL CORRESPONDENCEManuscripts and related correspondence should be sent to: Professor Yuji Nakajima, Editor-in-Chief, Congenital Anomalies, c/o Department of Anatomy and Cell Biology, Graduate School of Medicine, Osaka City Uni-versity, 1-4-3 Asahimachi, Abenoku, Osaka, 545-8585, Japan (phone: +81-6- 6645-3706; fax: +81-6-6646-3603; email: [email protected])
For details concerning the submission of papers to Congenital Anomalies, see the Author Guidelines at the Journal website.
BUSINESS CORRESPONDENCEAll matters relating to membership of the Society should be sent to: Dr. Hiroki Otani, President, The Japanese Teratology Society, c/o Department of Developmental Biology, Faculty of Medicine, Shimane University, Izumo 693-8501, Shimane, Japan (phone: +81 853 20 2102; fax: +81 853 20 2100; email: [email protected])
ISSN 0914-3505 (Print)ISSN 1741-4520 (Online)
DISCLAIMERThe Publisher, Society and Editors cannot be held responsible for errors or any consequences arising from the use of information contained in this journal; the views and opinions expressed do not necessarily refl ect those of the Publisher, Society and Editors, neither does the publication of advertise-ments constitute any endorsement by the Publisher, Society and Editors of the products advertised.
COPYRIGHT AND PHOTOCOPYINGCopyright © 2016 Japanese Teratology Society. All rights reserved. No part of this publication may be reproduced, stored or transmitted in any form or by any means without the prior permission in writing from the copyright holder. Authorization to copy items for internal and personal use is granted by the copyright holder for libraries and other users registered with their local Reproduction Rights Organisation (RRO), e.g. Copyright Clearance Center (CCC), 222 Rosewood Drive, Danvers, MA 01923, USA (www.copyright.com), provided the appropriate fee is paid directly to the RRO. This consent does not extend to other kinds of copying such as copying for general distribution, for advertising and promotional purposes, for creating new collective works or for resale. Special requests should be addressed to: [email protected]
COVER OF THIS ISSUEPseudostratified columnar epithelium (top left, SEM) and apical mitosis (bottom left, arrowhead, HE staining) in the developing ureter of mesoderm origin suggest interkinetic nuclear migration which is related with apical primary cilia (top right, SEM, white arrowheads; bottom right, -tubulin immunofluorostaining, green). Further details can be seen in the article by Motoya et al. in this issue.
