Complete monosomy 21 confirmed by FISH and array-CGH
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35251/fullpdf
Reference17 articles.
1. Prenatal diagnosis of a fetus with megacystis and monosomy 21;Chang;Prenat Diagn,2001
2. Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening;Cheng;Obstet Gynecol,2006
3. A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-;Davis;Cytogenet Cell Genet,1976
4. A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization;Flaherty;J Intellect Disabil Res,2002
5. Full monosomy 21: A clinically recognizable syndrome;Fryns;Hum Genet,1977
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1. High‐level mosaic monosomy 21 in a 13‐year‐old girl: Case report and review of the literature;American Journal of Medical Genetics Part A;2021-12-10
2. Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development;Molecular Cytogenetics;2016-02-04
3. Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region;PLOS Genetics;2015-03-24
4. Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature;Case Reports in Genetics;2014
5. Complete monosomy mosaic of chromosome 21: Case report and review of literature;Gene;2012-12
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