Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy-Reference-Cited by-同舟云学术

Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy

Published:2013-01-15 Issue:2 Volume:161 Page:331-337
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Putoux Audrey,Labalme Audrey,André Jean-Marie,Till Marianne,Schluth-Bolard Caroline,Berard Jérôme,Bertrand Yves,Edery Patrick,Putet Guy,Sanlaville Damien

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35708/fullpdf

Reference34 articles.

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2. Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions;Bliek;Eur J Med Genet,2009

3. Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome;Chen;Taiwan J Obstet Gynecol,2007

4. Beckwith-Wiedemann syndrome;Choufani;Am J Med Genet Part C,2010

5. Detecting rearrangements in children using subtelomeric FISH and SKY;Clarkson;Am J Med Genet,2002

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1. Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings;American Journal of Medical Genetics Part A;2021-05-27

2. Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion;Laboratory Medicine Online;2020-07-01