Clinical, Cytogenetic, and Molecular Characterization of a Girl with Some Clinical Features of Down Syndrome Resulting from a Pure Partial Trisomy 21q22.11-qter Due to a De Novo Intrachromosomal Duplication
Author:
Affiliation:
1. Institute of Medical Genetics, Hospital Italiano, Montevideo, Uruguay.
2. Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts.
3. Facultad de Psicología, Universidad de la República, Montevideo, Uruguay.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical),General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2009.0067
Reference38 articles.
1. NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
2. Partial trisomy 21
3. On the selection of patients with developmental delay/mental retardation and autism spectrum disorders for genetic studies
4. Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21
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1. A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay;European Journal of Medical Genetics;2022-04
2. A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype;npj Genomic Medicine;2016-03-02
3. Autosomal Aneuploidy;The Principles of Clinical Cytogenetics;2012-08-30
4. A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings;Taiwanese Journal of Obstetrics and Gynecology;2011-12
5. The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome;Behavioural Brain Research;2011-03
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