Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication

Carvalho, Daniel R.; Moretto, Ana Luisa Lourenco; Schneider, M P C; Formigli, Lia Menezes

doi:10.1159/000515643

Cytogenet Genome Res

2021

DOI: 10.1159/000515643

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Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication

Daniel R. Carvalho¹,

Ana Luisa Lourenco Moretto²,

M P C Schneider³

et al.

Abstract: Pure partial duplications of the long arm of chromosome 16 are rare and few cases are described with delineation by chromosomal microarray. Data about clinical abnormalities of pure partial 16q duplications are incomplete because many individuals die during the perinatal period. We describe the clinical features of a 47-month-old Brazilian girl with 16q21q24.1 duplication. To the best of our knowledge, she is the first person with this specific chromosome segment duplication, and we compare her phenotype with … Show more

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A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

Moschella,

Capra,

Corica

et al. 2023

BMC Med Genomics

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Background Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac defects, intellectual disability (ID) and an increased risk of both prenatal and postnatal lethality. Smaller copy number variants (CNV) within the 16q region create partial trisomies, which occur less frequently than full trisomy 16q. Case presentation We present the clinical case of a 12-years-old male with a 16q22.3q24.1 de novo heterozygous duplication whose phenotype was characterized by ID, facial dysmorphisms, stature and weight overgrowth. To date, only five other cases of this syndrome have been reported in scientific literature, and none of them comprised overgrowth. Conclusions Our case report highlights the great heterogeneity in clinical manifestations and provides new evidence for better defining the phenotypic picture for smaller 16q distal CNVs, suggesting unusual features.

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A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

Moschella,

Capra,

Corica

et al. 2023

BMC Med Genomics

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Genetic analysis of partial duplication of the long arm of chromosome 16

Tang,

Chen,

et al. 2024

BMC Med Genomics

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Background Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV). The primary clinical phenotypes associated with this syndrome include abnormal facial morphology, global developmental delay (GDD), short stature, and reported predisposing factors for atypical behavior, autism, the development of learning disabilities, and neuropsychiatric disorders. The dosage-sensitive genes associated with partial trisomy are not disclosed preventing to establish a genotype-phenotype correlation. Methods We report a case of a Chinese patient diagnosed with GDD and an abnormal facial shape, who was found to have partial trisomy 16 through karyotyping and high-throughput sequencing analysis. Karyotype and CNV tracing analyses were also conducted on the biological parents of the patient to assess for any chromosomal structural abnormalities. Additionally, we included 29 patients with pure partial trisomy 16q, reported in the DECIPHER database and the literature. We and performed a genotype-phenotype correlation analysis. Results The proband, a 2-year-old female, was found to have a de novo 21.96 Mb duplication located between 16q12.1q22.1, with no other deletions observed on other chromosomes, indicating a pure partial trisomy of 16q. Through genotype and phenotype analysis of 29 individuals, we found that patients with the duplicated region located at the distal region of 16q may exhibit more severe symptoms than those with duplication at the proximal region; however, no relationship was identified between phenotype and the size of the duplicated segment. Conclusion We report, for the first time, a patient with partial trisomy 16q validated by multiple genetic tests, including CNV-seq, whole exome sequencing (WES), and karyotyping. It is speculated that partial trisomy of 16q may be associated with continuous gene duplication. However, functional studies are necessary to identify the causative gene or critical region linked to duplication syndrome of chromosome 16q.

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Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication

Cited by 2 publications

References 18 publications

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

Genetic analysis of partial duplication of the long arm of chromosome 16

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