Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion

Bonaglia, María Clara; Fichera, Marco; Marelli, Susan; Romaniello, Romina; Zuffardi, Orsetta

doi:10.1016/j.ejmg.2022.104596

Cited by 1 publication

(4 citation statements)

References 21 publications

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“…The spectrum of clinical features associated with this syndrome can be variable and depend on the number of genes deleted. However, it can include developmental delay, mild to moderate intellectual disability, hypotonia, growth hormone insufficiency, hearing loss, ear canal atresia/stenosis, foot anomalies, and hypospadias (Bonaglia et al, 2022; Feenstra et al, 2007). The patient bearing RC18‐1 exhibited small size, developmental concerns, and possible implications for a cognitive deficit, delayed development, difficulty gaining and losing weight, poor appetite, and ear infections.…”

Section: Resultsmentioning

confidence: 99%

“…Clinical features associated with this syndrome depend on the number of genes deleted. They can include developmental delay, mild to moderate intellectual disability, hypotonia, growth hormone insufficiency, hearing loss, ear canal atresia/stenosis, foot anomalies, and hypospadias (Bonaglia et al, 2022; Feenstra et al, 2007). The contiguous short arm quadruplication/duplication interval includes at least twenty genes.…”

Section: Resultsmentioning

confidence: 99%

“…This contiguous duplication is consistent with structural imbalances arising from inverted duplications. Inverted duplication-contiguous terminal deletions are usually meiotically derived and de novo (Bonaglia et al, 2022). The abnormal 18 structure was thought to represent a ring, which is rarely inherited.…”

Section: Chromosome 18 Ringsmentioning

confidence: 99%

“…The spectrum of clinical features associated with this syndrome can be variable and depend on the number of genes deleted. However, it can include developmental delay, mild to moderate intellectual disability, hypotonia, growth hormone insufficiency, hearing loss, ear canal atresia/stenosis, foot anomalies, and hypospadias(Bonaglia et al, 2022;F I G U R E 6 Results for non-mosaic RC18-1, RC18-2, and mosaic RC18-3. (a) Partial G-banded karyotypes of RC18-1 with a normal chromosome 18 homolog for comparison and the SNP array plot (Illumina 850k v1.2) showing a terminal deletion of the long arm of chromosome 18 between bands 18q21.33 and 18q23 (chr18: 58,873,309-76,116,152; hg19).…”

mentioning

confidence: 99%

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Live‐born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series—Spanning 52 years of experience in a single center

Kushwaha,

Stinnett,

Zou

et al. 2023

American J of Med Genetics Pt A

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Ring chromosomes (RCs) are a structural aberration that can be tolerated better in acrocentric or gonosomal chromosomes. Complete RCs arise from telomere‐telomere fusions. Alternatively, genomic imbalances corresponding to the ends of the chromosomal arms can be seen with RC formation. RCs are unstable in mitosis, result in mosaicism, and are associated with a “ring syndrome,” which presents with growth and development phenotypes and differs from those features more frequently observed with pure terminal copy number changes. Due to variability in mosaicism, size, and genomic content, clear genotype–phenotype correlations may not always be possible. Given the rarity of RCs, this historical data is invaluable. We performed a retrospective review of individuals bearing RCs to investigate the incidence in our laboratory. This work details the methods and features seen in association with twenty‐three autosomal RCs. In decreasing order, the most frequently seen autosomal RCs were 18, 22, 4, 13, 17, and 9. The additional cases detail clinical and cytogenomic events similar to those reported in RCs. As methodologies advance, insights may be gleaned from following up on these cases to improve genotype–phenotype correlations and understand the cryptic differences or other predisposing factors that lead to ring formation and development.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Chromosome 18 Ringsmentioning

confidence: 99%

“…The spectrum of clinical features associated with this syndrome can be variable and depend on the number of genes deleted. However, it can include developmental delay, mild to moderate intellectual disability, hypotonia, growth hormone insufficiency, hearing loss, ear canal atresia/stenosis, foot anomalies, and hypospadias(Bonaglia et al, 2022;F I G U R E 6 Results for non-mosaic RC18-1, RC18-2, and mosaic RC18-3. (a) Partial G-banded karyotypes of RC18-1 with a normal chromosome 18 homolog for comparison and the SNP array plot (Illumina 850k v1.2) showing a terminal deletion of the long arm of chromosome 18 between bands 18q21.33 and 18q23 (chr18: 58,873,309-76,116,152; hg19).…”

mentioning

confidence: 99%

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