2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype
We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome. We describe an additional newborn with craniofacial dysmo...
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| Published in | Clinical case reports Vol. 9; no. 6 |
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| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Bognor Regis
John Wiley & Sons, Inc
01.06.2021
Wiley |
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| Abstract | We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome.
We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome. |
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| AbstractList | We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome. We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome. We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome. Abstract We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome. |
| Author | Serra, Gregorio Giuffrè, Mario Piro, Ettore Schierz, Ingrid Anne Mandy Corsello, Giovanni |
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| Cites_doi | 10.1093/hmg/ddp233 10.1186/s13256-018-1620-4 10.1111/j.1399-0004.2011.01637.x 10.1007/s13353-012-0097-x 10.1016/j.eplepsyres.2019.106223 10.1186/s13052-018-0483-z 10.1186/s13052-019-0718-7 10.1093/hmg/ddu144 10.1093/bfgp/elv018 10.1101/mcs.a000844 10.1002/ajmg.a.32950 10.1111/cge.12696 10.1055/s-0039-1694015 10.1186/s13039-015-0157-0 10.1136/jmedgenet-2014-102476 10.1002/ajmg.b.32627 10.1016/j.neuroscience.2009.10.035 10.1002/ajmg.a.37269 10.1056/NEJMoa1200395 |
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| References_xml | – volume: 89 start-page: 630 issue: 5 year: 2016 end-page: 635 article-title: Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey publication-title: Clin Genet – volume: 165 start-page: 363 issue: 2 year: 2010 end-page: 370 article-title: Cathepsin D and apoptosis related proteins are elevated in the brain of autistic subjects publication-title: Neuroscience – volume: 8 start-page: 57 year: 2015 article-title: A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms publication-title: Mol Cytogenet – volume: 12 start-page: 79 issue: 1 year: 2018 article-title: An atypical autistic phenotype associated with a 2q13 microdeletion: a case report publication-title: J Med Case Rep – volume: 51 start-page: 635 issue: 10 year: 2014 end-page: 645 article-title: Oculo‐auriculo‐vertebral spectrum: a review of the literature and genetic update publication-title: J Med Genet – volume: 167A start-page: 2664 issue: 11 year: 2015 end-page: 2673 article-title: Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes publication-title: Am J Med Genet A – volume: 81 start-page: 257 issue: 3 year: 2012 end-page: 264 article-title: A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism publication-title: Clin Genet – volume: 8 start-page: 205 issue: 4 year: 2019 end-page: 211 article-title: Cerebral white matter lesions and dysmorphisms: signs suggestive of 6p25 deletion syndrome‐literature review publication-title: J Pediatr Genet – volume: 18 start-page: 2957 issue: 16 year: 2009 end-page: 2962 article-title: Segmental duplications mediate novel, clinically relevant chromosome rearrangements publication-title: Hum Mol Genet – volume: 158 year: 2019 article-title: 7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and epilepsy. Literature review publication-title: Epilepsy Res – volume: 53 start-page: 285 issue: 3 year: 2012 end-page: 288 article-title: Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array‐CGH publication-title: J Appl Genet – volume: 23 start-page: 4272 issue: 16 year: 2014 end-page: 4284 article-title: Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations publication-title: Hum Mol Genet – volume: 14 start-page: 315 issue: 5 year: 2015 end-page: 328 article-title: Gene discovery and functional assessment of rare copy‐number variants in neurodevelopmental disorders publication-title: Brief Funct Genomics – volume: 44 start-page: 45 issue: 1 year: 2018 article-title: Clinical and molecular characterization of 112 single‐center patients with Neurofibromatosis type 1 publication-title: Ital J Pediatr – volume: 45 start-page: 138 issue: 1 year: 2019 article-title: NF1 microdeletion syndrome: case report of two new patients publication-title: Ital J Pediatr – volume: 149A start-page: 1853 issue: 8 year: 2009 end-page: 1859 article-title: Syndromes of the first and second pharyngeal arches: a review publication-title: Am J Med Genet A – volume: 2 start-page: a000844 issue: 3 year: 2016 article-title: Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy publication-title: Cold Spring Harb Mol Case Stud – volume: 177 start-page: 397 issue: 4 year: 2018 end-page: 405 article-title: Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications publication-title: Am J Med Genet B Neuropsychiatr Genet – volume: 367 start-page: 1321 issue: 14 year: 2012 end-page: 1331 article-title: Phenotypic heterogeneity of genomic disorders and rare copy‐number variants publication-title: N Engl J Med – ident: e_1_2_9_4_1 doi: 10.1093/hmg/ddp233 – ident: e_1_2_9_6_1 doi: 10.1186/s13256-018-1620-4 – ident: e_1_2_9_3_1 doi: 10.1111/j.1399-0004.2011.01637.x – ident: e_1_2_9_16_1 doi: 10.1007/s13353-012-0097-x – ident: e_1_2_9_14_1 doi: 10.1016/j.eplepsyres.2019.106223 – ident: e_1_2_9_19_1 doi: 10.1186/s13052-018-0483-z – ident: e_1_2_9_20_1 doi: 10.1186/s13052-019-0718-7 – ident: e_1_2_9_9_1 doi: 10.1093/hmg/ddu144 – ident: e_1_2_9_18_1 doi: 10.1093/bfgp/elv018 – ident: e_1_2_9_10_1 doi: 10.1101/mcs.a000844 – ident: e_1_2_9_7_1 doi: 10.1002/ajmg.a.32950 – ident: e_1_2_9_17_1 doi: 10.1111/cge.12696 – ident: e_1_2_9_15_1 doi: 10.1055/s-0039-1694015 – ident: e_1_2_9_5_1 doi: 10.1186/s13039-015-0157-0 – ident: e_1_2_9_8_1 doi: 10.1136/jmedgenet-2014-102476 – ident: e_1_2_9_2_1 doi: 10.1002/ajmg.b.32627 – ident: e_1_2_9_11_1 doi: 10.1016/j.neuroscience.2009.10.035 – ident: e_1_2_9_13_1 doi: 10.1002/ajmg.a.37269 – ident: e_1_2_9_12_1 doi: 10.1056/NEJMoa1200395 |
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| Title | 2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype |
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