Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference33 articles.
1. A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome
2. Unraveling heterochromatin
3. Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?
4. Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A
Cited by 11 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. Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p;Clinical Case Reports;2022-10
2. Ultrasonographic findings and prenatal diagnosis of complete trisomy 17p syndrome: A case report and review of the literature;Journal of Clinical Laboratory Analysis;2020-09-20
3. Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter;Gene;2014-03
4. Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype;American Journal of Medical Genetics Part A;2012-07-20
5. Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly;Taiwanese Journal of Obstetrics and Gynecology;2011-12
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