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Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R. Gavril EC, et al. Genes (Basel). 2023 Feb 11;14(2):465. doi: 10.3390/genes14020465. Genes (Basel). 2023. PMID: 36833393 Free PMC article. Review.
2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric deletion disorders, caused by a 2q37 deletion of variable size. ...RESULTS: From nine cases, four had pure 2q37 deletions of variable sizes, and f
2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric deletion disorders, caused by a
Splenic Volvulus and 2q37 Deletion Syndrome.
Labiad C, Vaillant JC, Genser L. Labiad C, et al. J Gastrointest Surg. 2021 Nov;25(11):2999-3000. doi: 10.1007/s11605-021-05013-1. Epub 2021 Apr 26. J Gastrointest Surg. 2021. PMID: 33904059 No abstract available.
2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.
Giraldo-Ocampo S, Pachajoa H. Giraldo-Ocampo S, et al. BMC Pediatr. 2022 Oct 4;22(1):569. doi: 10.1186/s12887-022-03620-8. BMC Pediatr. 2022. PMID: 36192675 Free PMC article.
BACKGROUND: 2q37 deletion syndrome is a rare autosomal dominant disorder caused by deletions in the 2q37 cytobands leading to developmental delay, intellectual disability, behavioral abnormalities and dysmorphic craniofacial features with more than 115 …
BACKGROUND: 2q37 deletion syndrome is a rare autosomal dominant disorder caused by deletions in the 2q37 cytoban …
2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.
Cho EK, Kim J, Yang A, Cho SY, Jin DK. Cho EK, et al. Ann Pediatr Endocrinol Metab. 2017 Jun;22(2):129-132. doi: 10.6065/apem.2017.22.2.129. Epub 2017 Jun 28. Ann Pediatr Endocrinol Metab. 2017. PMID: 28690993 Free PMC article.
Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. ...When patients are suspected of having a 2q37 deleti
Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations …
Chromosome 2q37 deletion: clinical and molecular aspects.
Falk RE, Casas KA. Falk RE, et al. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):357-71. doi: 10.1002/ajmg.c.30153. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910077 Review.
Terminal deletions of chromosome 2 with breakpoints at or within band 2q37, ranging from visible abnormalities to cryptic, subtelomeric deletions, have been recognized with increasing frequency among children with mild-moderate mental retardation, characteris …
Terminal deletions of chromosome 2 with breakpoints at or within band 2q37, ranging from visible abnormalities to cryptic, sub …
2q37 Microdeletion Syndrome - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Doherty ES, Lacbawan FL. Doherty ES, et al. 2007 May 3 [updated 2013 Jan 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 May 3 [updated 2013 Jan 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301337 Free Books & Documents. Review.
DIAGNOSIS/TESTING: Chromosome analysis confirms the diagnosis of 2q37 deletion syndrome in 80%-85% of affected individuals. In about 15%-20% of cases the small size of the deleted region can only be detected using deletion analysis (which relies on a v …
DIAGNOSIS/TESTING: Chromosome analysis confirms the diagnosis of 2q37 deletion syndrome in 80%-85% of affected individuals. In …
Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.
Le TN, Williams SR, Alaimo JT, Elsea SH. Le TN, et al. Am J Med Genet A. 2019 May;179(5):782-791. doi: 10.1002/ajmg.a.61089. Epub 2019 Mar 7. Am J Med Genet A. 2019. PMID: 30848064 Review.
The 2q37 deletion syndrome, also described in the literature as brachydactyly-mental retardation syndrome (MIM 600430), is caused by deletion or haploinsufficiency of the HDAC4 gene, which encodes the histone deacetylase 4 protein. ...With the advent o …
The 2q37 deletion syndrome, also described in the literature as brachydactyly-mental retardation syndrome (MIM 600430), is cau …
Genotype-Phenotype Correlation of Distal 2q37 Deletions.
Iwata-Otsubo A, Darr KR, Torres-Martinez W, Hodge JC. Iwata-Otsubo A, et al. Cytogenet Genome Res. 2022;162(5):237-243. doi: 10.1159/000526660. Epub 2022 Dec 14. Cytogenet Genome Res. 2022. PMID: 36516793
Brachydactyly mental retardation syndrome (BDMR) typically results from large deletions (>2-9 Mb) in distal 2q37. Haploinsufficiency of HDAC4 with incomplete penetrance has been proposed as the primary genetic cause of BDMR. To date, pure 2q37 deletions
Brachydactyly mental retardation syndrome (BDMR) typically results from large deletions (>2-9 Mb) in distal 2q37. Haploinsu …
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.
Riviello FN, Daponte A, Ponzi E, Ficarella R, Orsini P, Bucci R, Ventura M, Antonacci F, Catacchio CR, Gentile M. Riviello FN, et al. Genes (Basel). 2023 Dec 10;14(12):2194. doi: 10.3390/genes14122194. Genes (Basel). 2023. PMID: 38137016 Free PMC article.
Large-scale genomic structural variations can have significant clinical implications, depending on the specific altered genomic region. Briefly, 2q37 microdeletion syndrome is a prevalent subtelomeric deletion disorder characterized by variable-sized deletions
Large-scale genomic structural variations can have significant clinical implications, depending on the specific altered genomic region. Brie …
Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome.
Maass PG, Weise A, Rittscher K, Lichtenwald J, Barutcu AR, Liehr T, Aydin A, Wefeld-Neuenfeld Y, Pölsler L, Tinschert S, Rinn JL, Luft FC, Bähring S. Maass PG, et al. EMBO J. 2018 Aug 1;37(15):e96257. doi: 10.15252/embj.201696257. Epub 2018 Jun 19. EMBO J. 2018. PMID: 29921581 Free PMC article.
Here, we investigated the inter-chromosomal interactions between chromosomes 2q, 12, and 17 in human mesenchymal stem cells (MSCs) and MSC-derived cell types by DNA-FISH We compared our findings in normal karyotypes with a three-generation family harboring a 2q37-deleti
Here, we investigated the inter-chromosomal interactions between chromosomes 2q, 12, and 17 in human mesenchymal stem cells (MSCs) and MSC-d …
164 results