9q34 &amp; 16p13 chromosome duplications in autism

Carlo, Simón; Martinez-Baladejo, Maria T; Santiago-Cornier, Alberto; Arciniegas-Medina, Norma

doi:10.21037/acr.2020.03.07

Cited by 2 publications

(2 citation statements)

References 55 publications

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Section: Discussionmentioning

confidence: 99%

“…To date, two studies have reported on clinical phenotype in carriers of CNVs in 16p13.13 25 26. Carlo and colleagues25 presented a case of a young boy with a duplication in chromosome 16p13 and chromosome 9q34 with autism spectrum disorder. As this young boy carried two different duplications, it is unclear which duplication, if any, was associated with autism.…”

Section: Discussionmentioning

confidence: 99%

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Global developmental delay and a de novo deletion of the 16p13.13 region

Krakowski,

Hoang,

Trost

et al. 2024

BMJ Case Rep

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Many rare genetic variants are associated with the risk of atypical neurodevelopmental trajectories. In this study, we report a patient with developmental delay, autistic traits and multiple congenital anomalies, including congenital heart anomalies and orofacial cleft, with a 0.832 Mb de novo deletion of the 16p13.13 region classified as a variant of uncertain significance. Comparison of similar sized deletions and duplications overlapping the same genes in the DECIPHER database, revealed seven reports of copy number variants (CNVs), four duplications and three deletions. A neurodevelopmental phenotype including learning disability and intellectual disability was noted in some of the DECIPHER entries where phenotype was provided. Although the association between a deletion in this region and an atypical neurodevelopmental trajectory remains to be elucidated, the overlapping CNVs with neurodevelopmental phenotypes suggests possible candidate genes within the 16p13.13 region.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%