De novo 1q32q44 duplication and distal 1q trisomy syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference15 articles.
1. Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.
2. Partial trisomy 1q due to tandem duplication
3. Proximal trisomy 1q in a girl with developmental delay and minor anomalies
4. Duplication of the distal part of the long arm of chromosome 1
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1. Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report;Neonatal Medicine;2022-05-31
2. Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review;Molecular Cytogenetics;2020-08-25
3. Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation;BMJ Case Reports;2019-08
4. Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability;Molecular Cytogenetics;2019-04-17
5. Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations: A systematic review;Taiwanese Journal of Obstetrics and Gynecology;2019-01
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