Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism-Reference-Cited by-同舟云学术

Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism

Published:2021-01 Issue:1 Volume:60 Page:169-172
ISSN:1028-4559
Container-title:Taiwanese Journal of Obstetrics and Gynecology
language:en
Short-container-title:Taiwanese Journal of Obstetrics and Gynecology

Author:

Chen Chih-Ping,Lin Shuan-Pei,Chern Schu-Rern,Wu Peih-Shan,Chen Shin-Wen,Wu Fang-Tzu,Town Dai-Dyi,Wang Wayseen

Funder

Ministry of Science and Technology, Taiwan

Mackay Memorial Hospital

Publisher

Elsevier BV

Subject

Obstetrics and Gynaecology

Reference13 articles.

1. De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay;Wincent;Eur J Med Genet,2010

2. De novo 46,XX,dir dup(11)(q13.3→ q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia;Legius;Clin Genet,1996

3. Upper airway malformation associated with partial trisomy 11q;Zhao;Am J Med Genet,2003

4. Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21);Yelavarthi;Am J Med Genet,2004

5. Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings;Kayhan;Gene,2013

Cited by 2 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. A cytoskeleton-membrane interaction conserved in fast-spiking neurons controls movement, emotion, and memory;Molecular Psychiatry;2023-09

2. Beyond Neuronal Microtubule Stabilization: MAP6 and CRMPS, Two Converging Stories;Frontiers in Molecular Neuroscience;2021-05-05