Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35236/fullpdf
Reference35 articles.
1. Subtelomeric rearrangements detected in patients with idiopathic mental retardation;Anderlid;Am J Hum Genet,2002
2. A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region;Bartsch;Hum Genet,1997
3. Identification and characterization of a de novo trisomy 10p by comparative genomic hybridization (CGH);Benzacken;Clin Genet,1998
4. Pure trisomy 10p involving an isochromosome 10p;Berend;Clin Genet,1999
5. Benign myopathy, with autosomal dominant inheritence-a report on three pedigrees;Bethlem;Brain,1976
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3. Prevalence of chromosomal abnormalities identified by copy number variation sequencing in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders;Journal of International Medical Research;2019-02-07
4. Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies;Molecular Cytogenetics;2018-08-01
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