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De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities
A de novo, apparently balanced complex chromosome rearrangement (CCR) involving five chromosomes and six chromosome breakpoints was found in a child with Marfanoid habitus, kyphoscoliosis, axillary pterygium, camptodactyly, joint laxity, and mild mental retardation. Fluorescence in situ hybridizatio...
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| Published in: | American journal of medical genetics 2003-03, Vol.117A (3), p.207-211 |
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| Main Authors: | , , , , , , , |
| Format: | Article |
| Language: | English |
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| cites | cdi_FETCH-LOGICAL-c3999-b689260f73e52db59e6b1a9a39a2bacf0cdf62262ef8e4b303cacfc749aeaf33 |
| container_end_page | 211 |
| container_issue | 3 |
| container_start_page | 207 |
| container_title | American journal of medical genetics |
| container_volume | 117A |
| creator | Battisti, C. Bonaglia, M.C. Giglio, S. Anichini, C. Pucci, L. Dotti, M.T. Zuffardi, O. Federico, A. |
| description | A de novo, apparently balanced complex chromosome rearrangement (CCR) involving five chromosomes and six chromosome breakpoints was found in a child with Marfanoid habitus, kyphoscoliosis, axillary pterygium, camptodactyly, joint laxity, and mild mental retardation. Fluorescence in situ hybridization (FISH) revealed a simple translocation involving chromosomes 3 and 13, and a complex rearrangement involving chromosomes 4, 8, and 18 with four breakpoints. © 2003 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.10149 |
| format | article |
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Bonaglia, M.C. ; Giglio, S. ; Anichini, C. ; Pucci, L. ; Dotti, M.T. ; Zuffardi, O. ; Federico, A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3999-b689260f73e52db59e6b1a9a39a2bacf0cdf62262ef8e4b303cacfc749aeaf33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - pathology</topic><topic>axillary pterigium</topic><topic>Biological and medical sciences</topic><topic>Bone and Bones - abnormalities</topic><topic>camptodactily</topic><topic>Child</topic><topic>Chromosome aberrations</topic><topic>chromosome rearrangements</topic><topic>Chromosomes, Human, Pair 13 - genetics</topic><topic>Chromosomes, Human, Pair 18 - genetics</topic><topic>Chromosomes, Human, Pair 3 - genetics</topic><topic>Chromosomes, Human, Pair 4 - genetics</topic><topic>Chromosomes, Human, Pair 8 - genetics</topic><topic>Fingers - abnormalities</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Intellectual Disability - pathology</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>mental retardation</topic><topic>Translocation, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Battisti, C.</creatorcontrib><creatorcontrib>Bonaglia, M.C.</creatorcontrib><creatorcontrib>Giglio, S.</creatorcontrib><creatorcontrib>Anichini, C.</creatorcontrib><creatorcontrib>Pucci, L.</creatorcontrib><creatorcontrib>Dotti, M.T.</creatorcontrib><creatorcontrib>Zuffardi, O.</creatorcontrib><creatorcontrib>Federico, A.</creatorcontrib><collection>Istex</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>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Battisti, C.</au><au>Bonaglia, M.C.</au><au>Giglio, S.</au><au>Anichini, C.</au><au>Pucci, L.</au><au>Dotti, M.T.</au><au>Zuffardi, O.</au><au>Federico, A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. 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| subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology axillary pterigium Biological and medical sciences Bone and Bones - abnormalities camptodactily Child Chromosome aberrations chromosome rearrangements Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 18 - genetics Chromosomes, Human, Pair 3 - genetics Chromosomes, Human, Pair 4 - genetics Chromosomes, Human, Pair 8 - genetics Fingers - abnormalities Humans In Situ Hybridization, Fluorescence Intellectual Disability - pathology Male Medical genetics Medical sciences mental retardation Translocation, Genetic |
| title | De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities |
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