Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature

Fang, Hung-Hsiang; Liu, Shih-Yao; Wang, Ying-Fu; Chiang, Che‐Ming; Liu, Chiung-Chen; Lin, Chien‐Ming

doi:10.1002/mgg3.739

Cited by 10 publications

(14 citation statements)

References 14 publications

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“…The 2.1 Mb deletion on chromosome 20p13 likely has a major role in the pathogenesis of the observed phenotype. Indeed, 20p13 deletions have been reported in patients with motor and speech developmental delays, intellectual disability, epilepsy and non-specific dysmorphic features [ 24 ]. Moreover, the deletion includes the CSNK2A1 gene, associated to the autosomal dominant Okur-Chung neurodevelopmental syndrome (MIM 617062), mainly characterized by global developmental delay, intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, motor disorder, and many behavioral disorders, including sleep problems [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

Pelleri

Locatelli²,

Mattina

et al. 2022

BMC Med Genomics

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Background Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and can be associated or not to DS: the study of PT21 cases is an invaluable model for addressing genotype–phenotype correlation in DS. Previous works reported systematic reanalyses of 132 subjects with PT21 and allowed the identification of a 34-kb highly restricted DS critical region (HR-DSCR) as the minimal region whose duplication is shared by all PT21 subjects diagnosed with DS. Methods We report clinical data and cytogenetic analysis of two children with PT21, one with DS and the other without DS. Moreover, we performed a systematic bibliographic search for any new PT21 report. Results Clinical and cytogenetic analyses of the two PT21 children have been reported: in Case 1 the duplication involves the whole long arm of Hsa21, except for the last 2.7 Mb, which are deleted as a consequence of an isodicentric 21: the HR-DSCR is within the duplicated regions and the child is diagnosed with DS. In Case 2 the duplication involves 7.1 Mb of distal 21q22, with a deletion of 2.1 Mb of proximal 20p, as a consequence of an unbalanced translocation: the HR-DSCR is not duplicated and the child presents with psychomotor development delay but no clinical signs of DS. Furthermore, two PT21 reports recently published (named Case 3 and 4) have been discussed: Case 3 has DS diagnosis, nearly full trisomy for Hsa21 and a monosomy for the 21q22.3 region. Case 4 is a baby without DS and a 0.56-Mb duplication of 21q22.3. Genotype–phenotype correlation confirmed the presence of three copies of the HR-DSCR in all DS subjects and two copies in all non-DS individuals. Conclusions The results presented here are fully consistent with the hypothesis that the HR-DSCR is critically associated with DS diagnosis. No exception to this pathogenetic model was found. Further studies are needed to detect genetic determinants likely located in the HR-DSCR and possibly responsible for core DS features, in particular intellectual disability.

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Section: Discussionmentioning

confidence: 99%

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

Pelleri

Locatelli²,

Mattina

et al. 2022

BMC Med Genomics

View full text Add to dashboard Cite

show abstract

“…The 2.1 Mb deletion on chromosome 20p13 likely has a major role in the pathogenesis of the observed phenotype. Indeed, 20p13 deletions have been reported in patients with motor and speech developmental delays, intellectual disability, epilepsy and non-speci c dysmorphic features [24]. Moreover, the deletion includes the CSNK2A1 gene, associated to the autosomal dominant Okur-Chung neurodevelopmental syndrome (MIM 617062), mainly characterized by global developmental delay, intellectual disability, autism spectrum disorder, attention de cit hyperactivity disorder, motor disorder, and many behavioral disorders, including sleep problems [25].…”

Section: Discussionmentioning

confidence: 99%

Partial trisomy 21 with or without highly restricted-Down syndrome critical region (HR- DSCR). Report of two new cases and reanalysis of the genotype-phenotype association

Pelleri

Locatelli

Mattina

et al. 2022

Preprint

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Background Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and can be associated or not to DS: the study of PT21 cases is an invaluable model for addressing genotype-phenotype correlation in DS. Previous works reported systematic reanalyses of 132 subjects with PT21 and allowed the identification of a 34-kb highly restricted DS critical region (HR-DSCR) as the minimal region whose duplication is shared by all PT21 subjects diagnosed with DS. Methods We report clinical data and cytogenetic analysis of two children with PT21, one with DS and the other without DS. Moreover, we performed a systematic bibliographic search for any new PT21 report. Results Clinical and cytogenetic analyses of the two PT21 children have been reported: in Case 1 the duplication involves the whole long arm of Hsa21, except for the last 2.7 Mb, which are deleted as a consequence of an isodicentric 21: the HR-DSCR is within the duplicated regions and the child is diagnosed with DS. In Case 2 the duplication involves 7.1 Mb of distal 21q22, with a deletion of 2.1 Mb of proximal 20p, as a consequence of an unbalanced translocation: the HR-DSCR is not duplicated and the child presents with psychomotor development delay but no clinical signs of DS. Furthermore, two PT21 reports recently published (named Case 3 and 4) have been discussed: Case 3 has DS diagnosis, nearly full trisomy for Hsa21 and a monosomy for the 21q22.3 region. Case 4 is a baby without DS and a 0.56-Mb duplication of 21q22.3. Genotype-phenotype correlation confirmed the presence of three copies of the HR-DSCR in all DS subjects and two copies in all non-DS individuals. Conclusions The results presented here are fully consistent with the hypothesis that the HR-DSCR is critically associated with DS diagnosis. No exception to this pathogenetic model was found. Further studies are needed to detect genetic determinants likely located in the HR-DSCR and possibly responsible for core DS features, in particular intellectual disability.

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“…20p13 microdeletion syndrome has been reported to be associated with developmental delays, intellectual disability, epilepsy, and unspecific dysmorphic characteristics. However, only a few cases of 20p13 microdeletion have been described, and therefore its typical features and precise pathogenesis remain elusive [ 48 ].…”

Section: Main Factors Influencing Cognition In Epileptic Children And...mentioning

confidence: 99%

Epilepsy and Cognitive Impairment in Childhood and Adolescence: A Mini-Review

Felicia

Pastorino

Viggiano

et al. 2023

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Managing epilepsy in people with intellectual disability remains a therapeutic challenge and must take into account additional issues such as diagnostic difficulties and frequent drug resistance. Advances in genomic technologies improved our understanding of epilepsy and raised the possibility to develop patients-tailored treatments acting on the key molecular mechanisms involved in the development of the disease. In addition to conventional antiseizure medications (ASMs), ketogenic diet, hormone therapy and epilepsy surgery play an important role especially in cases of drug resistance. This review aims to provide a comprehensive overview of the mainfactors influencing cognition in children and adolescents with epilepsy and the main therapeutic options available for the epilepsies associated with intellectual disability.

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Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature

Cited by 10 publications

References 14 publications

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

Partial trisomy 21 with or without highly restricted-Down syndrome critical region (HR- DSCR). Report of two new cases and reanalysis of the genotype-phenotype association

Epilepsy and Cognitive Impairment in Childhood and Adolescence: A Mini-Review

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