“Essentially” pure trisomy 3q27 → qter: Further delineation of the partial trisomy 3q phenotype-Reference-Cited by-同舟云学术

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“Essentially” pure trisomy 3q27 → qter: Further delineation of the partial trisomy 3q phenotype

Published:2009-11 Issue:11 Volume:149A Page:2522-2526
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Grossmann Vera,Müller Doris,Müller Wilfried,Fresser Friedrich,Erdel Martin,Janecke Andreas R.,Zschocke Johannes,Utermann Gerd,Kotzot Dieter

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Duplication 3q syndrome: Molecular delineation of the critical region;Aqua;Am J Med Genet,1995

2. Probing the human genome in search for a new 3q syndrome;Azar;Ann Genet,1999

3. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication;Ballif;Mol Cytogenet,2008

4. Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis;Battaglia;Am J Med Genet Part A,2006

5. A new case of dup(3q)syndrome due to a pure duplication of 3qter;Faas;Clin Genet,2002

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception;Italian Journal of Pediatrics;2023-02-09

2. A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome;Molecular Syndromology;2018

3. A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33);Journal of Pediatric Genetics;2017-07-26

4. Oculofacial Manifestations of Chromosomal Aberrations;The Eye in Pediatric Systemic Disease;2017

5. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome andde novoduplication 3q26.32-q27.2;Clinical Genetics;2016-10-10

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