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De Novo Interstitial Deletion of Chromosome 2 (p23p24)

Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2–2p25.1 and three cases of 2p23.3–2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative g...

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Published in:	Pediatrics and neonatology 2011-02, Vol.52 (1), p.46-50
Main Authors:	Su, Pen-Hua, Chen, Jia-Yuh, Tsao, Teng-Fu, Chen, Suh-Jen
Format:	Article
Language:	English
Subjects:	2p deletion Abnormalities, Multiple - genetics array CGH Biological and medical sciences Bone (cortical) Bone marrow Child chromosome 2 Chromosome Deletion Chromosomes, Human, Pair 2 Computed tomography Developmental Disabilities - genetics Dysostosis General aspects Genomes Hearing Hearing Disorders - genetics Humans Internal Medicine Limb Deformities, Congenital - genetics Limbs Magnetic Resonance Imaging Male Medical sciences Mental retardation Monosomy Motor skill learning Pediatrics radioulnar synostosis Radius Tomography, X-Ray Computed Ulna
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description	Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2–2p25.1 and three cases of 2p23.3–2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative genome hybridization. We present a clinical and cytogenetic report of a patient with psychomotor retardation, hearing impairment, and limb abnormalities. The obvious osseous fusion with bone marrow and cortex continuation between proximal parts of radius and ulna—congenital radioulnar synostosis—were first visualized by multidetector-row computed tomography scan.
doi_str_mv	10.1016/j.pedneo.2010.12.001
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There has only been one case of interstitial deletion of 2p24.2–2p25.1 and three cases of 2p23.3–2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative genome hybridization. We present a clinical and cytogenetic report of a patient with psychomotor retardation, hearing impairment, and limb abnormalities. 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There has only been one case of interstitial deletion of 2p24.2–2p25.1 and three cases of 2p23.3–2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative genome hybridization. We present a clinical and cytogenetic report of a patient with psychomotor retardation, hearing impairment, and limb abnormalities. The obvious osseous fusion with bone marrow and cortex continuation between proximal parts of radius and ulna—congenital radioulnar synostosis—were first visualized by multidetector-row computed tomography scan.</description><subject>2p deletion</subject><subject>Abnormalities, Multiple - genetics</subject><subject>array CGH</subject><subject>Biological and medical sciences</subject><subject>Bone (cortical)</subject><subject>Bone marrow</subject><subject>Child</subject><subject>chromosome 2</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 2</subject><subject>Computed tomography</subject><subject>Developmental Disabilities - genetics</subject><subject>Dysostosis</subject><subject>General aspects</subject><subject>Genomes</subject><subject>Hearing</subject><subject>Hearing Disorders - genetics</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Limb Deformities, Congenital - genetics</subject><subject>Limbs</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mental retardation</subject><subject>Monosomy</subject><subject>Motor skill learning</subject><subject>Pediatrics</subject><subject>radioulnar synostosis</subject><subject>Radius</subject><subject>Tomography, X-Ray Computed</subject><subject>Ulna</subject><issn>1875-9572</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>DOA</sourceid><recordid>eNqFkktv1DAUhb0A0TLwDxDKBlEWM_gde4NUTXmMVMECWFuOfQ0ekjjYmUr99zidoUgswBtL1nfOvb7nIvSM4A3BRL7ebybwI6QNxcsT3WBMHqBzolqx1qKlZ-hxKXuMJRNKPUJnlDAlpFDnSF5B8zHdpGY3zpDLHOdo--YKephjGpsUmu33nIZU0gANbS4myibKXz1BD4PtCzw93Sv09d3bL9sP6-tP73fby-u1E5rMa-isZKCcAIst1y24jnuhXGgdlqqjXAXV6aB9cBisk-0Catex1jHNvGQrtDv6-mT3ZspxsPnWJBvN3UPK34zNc3Q9GOVDqxnRtrpyHpQObWc5Y-C5oKCher08ek05_TxAmc0Qi4O-t3Vyh2LqRDjWukpW6OKfJMGUCsk4wxXlR9TlVEqGcN8kwWbJxtS277IxSzaGUFOzqbLnpwqHbgB_L_odTAVenABbnO1DtqOL5Q_HdP2m0pV7c-SgpnATIZviIowOfMzg5jqm-L9O_jZwfRxjrfkDbqHs0yGPNWFDTKkC83nZqWWlCF5OndYvNanCtQ</recordid><startdate>20110201</startdate><enddate>20110201</enddate><creator>Su, Pen-Hua</creator><creator>Chen, Jia-Yuh</creator><creator>Tsao, Teng-Fu</creator><creator>Chen, Suh-Jen</creator><general>Elsevier B.V</general><general>Elsevier</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>DOA</scope></search><sort><creationdate>20110201</creationdate><title>De Novo Interstitial Deletion of Chromosome 2 (p23p24)</title><author>Su, Pen-Hua ; Chen, Jia-Yuh ; Tsao, Teng-Fu ; Chen, Suh-Jen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c591t-eba63e8c5ea0a497ecb4d58cf7c068b248f8b9f9dfc0eac675ea09cb37c393d63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>2p deletion</topic><topic>Abnormalities, Multiple - genetics</topic><topic>array CGH</topic><topic>Biological and medical sciences</topic><topic>Bone (cortical)</topic><topic>Bone marrow</topic><topic>Child</topic><topic>chromosome 2</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 2</topic><topic>Computed tomography</topic><topic>Developmental Disabilities - genetics</topic><topic>Dysostosis</topic><topic>General aspects</topic><topic>Genomes</topic><topic>Hearing</topic><topic>Hearing Disorders - genetics</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Limb Deformities, Congenital - genetics</topic><topic>Limbs</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mental retardation</topic><topic>Monosomy</topic><topic>Motor skill learning</topic><topic>Pediatrics</topic><topic>radioulnar synostosis</topic><topic>Radius</topic><topic>Tomography, X-Ray Computed</topic><topic>Ulna</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Su, Pen-Hua</creatorcontrib><creatorcontrib>Chen, Jia-Yuh</creatorcontrib><creatorcontrib>Tsao, Teng-Fu</creatorcontrib><creatorcontrib>Chen, Suh-Jen</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Pediatrics and neonatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Su, Pen-Hua</au><au>Chen, Jia-Yuh</au><au>Tsao, Teng-Fu</au><au>Chen, Suh-Jen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>De Novo Interstitial Deletion of Chromosome 2 (p23p24)</atitle><jtitle>Pediatrics and neonatology</jtitle><addtitle>Pediatr Neonatol</addtitle><date>2011-02-01</date><risdate>2011</risdate><volume>52</volume><issue>1</issue><spage>46</spage><epage>50</epage><pages>46-50</pages><issn>1875-9572</issn><abstract>Structural anomalies associated with partial 2p monosomy are rare. 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subjects	2p deletion Abnormalities, Multiple - genetics array CGH Biological and medical sciences Bone (cortical) Bone marrow Child chromosome 2 Chromosome Deletion Chromosomes, Human, Pair 2 Computed tomography Developmental Disabilities - genetics Dysostosis General aspects Genomes Hearing Hearing Disorders - genetics Humans Internal Medicine Limb Deformities, Congenital - genetics Limbs Magnetic Resonance Imaging Male Medical sciences Mental retardation Monosomy Motor skill learning Pediatrics radioulnar synostosis Radius Tomography, X-Ray Computed Ulna
title	De Novo Interstitial Deletion of Chromosome 2 (p23p24)
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