Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference46 articles.
1. Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes
2. t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring
3. Cytogenetic "rogue" cells: what is their frequency, origin, and evolutionary significance?
4. Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart
5. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
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1. A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations;2023-12-13
2. A de novo partial trisomy 9p with Dandy–Walker malformation and ventriculomegaly;Taiwanese Journal of Obstetrics and Gynecology;2022-11
3. A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): A case report;Molecular Medicine Reports;2015-03-05
4. Duplication 9p and their implication to phenotype;BMC Medical Genetics;2014-12
5. Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis;BMC Endocrine Disorders;2014-01-08
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