Pregnancy with de novo 9q34.3 microdeletion and Kleefstra syndrome in the fetus may be associated with an abnormal maternal serum screening result
Author:
Funder
Ministry of Science and Technology
Mackay Memorial Hospital
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology
Reference11 articles.
1. A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells;Ogawa;Science,2002
2. Disruption of the gene euchromatin histone methyl transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome;Kleefstra;J Med Genet,2005
3. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome;Kleefstra;Am J Hum Genet,2006
4. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype;Kleefstra;J Med Genet,2009
5. Kleefstra Syndrome;Kleefstra,1993
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1. MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV;Biomedical Papers;2021-03-31
2. New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review;Cytogenetic and Genome Research;2018
3. First prenatal diagnosis of a ‘pure’ 9q34.3 deletion (Kleefstra syndrome): A case report and literature review;Journal of Obstetrics and Gynaecology Research;2017-11-21
4. Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome;Journal of Obstetrics and Gynaecology;2016-12-14
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