ArticleMolecular syndromology2019
Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype.
Article in Molecular syndromology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Article
- Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.Journal of medical case reports · 2022Review
- Genome-Wide Association Study on Reproduction-Related Body-Shape Traits of Chinese Holstein Cows.Animals : an open access journal from MDPI · 2021Article
- Microcephaly with altered cortical layering in GIT1 deficiency revealed by quantitative neuroimaging.Magnetic resonance imaging · 2021Article
- Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation.The journal of obstetrics and gynaecology research · 2020Article
- Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1-34 deletion: case report and literature review.BMC pediatrics · 2020Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
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Abstract
Patients with deletion of chromosome 13 present with variable clinical features, and the correlation between phenotype and genomic aberration is not well established in the literature, mainly due to variable sizes of the deleted segments and inaccuracy of breakpoint mapping. In order to improve the genotype-phenotype correlation, we obtained clinical and cytogenomic data from 5 Brazilian patients with different chromosome 13 deletions characterized by G-banding and array techniques. Breakpoints were nonrecurrent, with deletion sizes ranging from 3.8 to 43.3 Mb. Our patients showed some classic features associated with 13q deletion, independent of the location and size of the deletion: hypotonia, growth delay, psychomotor developmental delay, microcephaly, central nervous system anomalies, and minor facial dysmorphism as well as urogenital and limb abnormalities. Comparisons between the literature and our patients' data allowed us to narrow the critical regions that were previously reported for microphthalmia and urogenital abnormalities, indicating that gene haploinsufficiency of
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