Partial trisomy for the distal long arm of chromosome 5 (region q34→qter). A new clinically recognizable syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1979.tb01779.x/fullpdf
Reference4 articles.
1. Partial trisomy for the long arms of chromosome No. 5 due to insertion and further “aneusomie de recombination;Jalbert;J. med. Genet.,1975
2. Child with multiple anomalies and group B (4-5) long arm deletion (Bq-);Lindenbaum;Arch. Dis. Childh.,1971
3. Chromosome Identification by Image Analysis and Quantitative Cytochemistry
4. A new familial syndrome with osseous dysplasia and mental deficiency;Ruvalcaba;J. Pediat.,1971
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1. A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies;Molecular Genetics & Genomic Medicine;2021-10-08
2. Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects;Taiwanese Journal of Obstetrics and Gynecology;2020-01
3. Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality;Medicine;2019-12
4. Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3;BMC Medical Genetics;2013-01-24
5. Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy ofMSX2with craniosynostosis;American Journal of Medical Genetics Part A;2009-07
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