13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement
Deletion of 13q13.3 is an extremely rare event. We report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; and a large, round face with small organs such as the eyes and mout...
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| Veröffentlicht in: | Brain & development (Tokyo. 1979) 2020-09, Vol.42 (8), p.581-586 |
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| creator | Miura, Masaki Ishiyama, Akihiko Nakagawa, Eiji Sasaki, Masayuki Kurosawa, Kenji Inoue, Ken Goto, Yu-ichi |
| description | Deletion of 13q13.3 is an extremely rare event.
We report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; and a large, round face with small organs such as the eyes and mouth positioned near the center. She was hypotonic and had autism-like behaviors. Blood tests and brain MRI revealed no specific findings. However, G-banding chromosome analysis showed an apparently balanced translocation: 46,XX,t(7,13)(q11.23;q12.3). Both parents had normal karyotypes. Furthermore, her abnormal phenotype and chromosomal breakpoint lesion were suspected to be associated. Hence, we conducted array comparative genomic hybridization, which revealed a 3.2 Mb novel pathological microdeletion at 13q13.3 involving 17 genes including neurobeachin (NBEA), a neurodevelopment disorder gene. Furthermore, fluorescence in situ hybridization using probes adjacent to the microdeletion suggested a concomitant occurrence of the deletion and translocation as the structural basis of this rare genomic variant.
NBEA may have roles in her neurodevelopmental phenotypes, whereas other genes within the 13q13.3 microdeletion may contribute to her dysmorphic features. |
| doi_str_mv | 10.1016/j.braindev.2020.05.006 |
| format | Article |
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We report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; and a large, round face with small organs such as the eyes and mouth positioned near the center. She was hypotonic and had autism-like behaviors. Blood tests and brain MRI revealed no specific findings. However, G-banding chromosome analysis showed an apparently balanced translocation: 46,XX,t(7,13)(q11.23;q12.3). Both parents had normal karyotypes. Furthermore, her abnormal phenotype and chromosomal breakpoint lesion were suspected to be associated. Hence, we conducted array comparative genomic hybridization, which revealed a 3.2 Mb novel pathological microdeletion at 13q13.3 involving 17 genes including neurobeachin (NBEA), a neurodevelopment disorder gene. Furthermore, fluorescence in situ hybridization using probes adjacent to the microdeletion suggested a concomitant occurrence of the deletion and translocation as the structural basis of this rare genomic variant.
NBEA may have roles in her neurodevelopmental phenotypes, whereas other genes within the 13q13.3 microdeletion may contribute to her dysmorphic features.</description><identifier>ISSN: 0387-7604</identifier><identifier>EISSN: 1872-7131</identifier><identifier>DOI: 10.1016/j.braindev.2020.05.006</identifier><identifier>PMID: 32507666</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>13q13.3 microdeletion ; Apparently balanced chromosomal translocation ; array-Comparative Genomic Hybridization (a-CGH) ; Carrier Proteins - metabolism ; Child, Preschool ; Chromosome Deletion ; Chromosome Disorders - genetics ; Chromosomes, Human, Pair 13 - genetics ; Craniofacial Abnormalities - genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence - methods ; Intellectual disability ; Intellectual Disability - genetics ; Nerve Tissue Proteins - metabolism ; Neurodevelopmental disorder ; Neurodevelopmental Disorders - genetics ; Psychomotor Disorders ; Translocation, Genetic</subject><ispartof>Brain & development (Tokyo. 1979), 2020-09, Vol.42 (8), p.581-586</ispartof><rights>2020 The Japanese Society of Child Neurology</rights><rights>Copyright © 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c392t-f58ab00cd27e2dfd2b9098a286dd905614965dbd93c5ccc48cecd845a700963e3</citedby><cites>FETCH-LOGICAL-c392t-f58ab00cd27e2dfd2b9098a286dd905614965dbd93c5ccc48cecd845a700963e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.braindev.2020.05.006$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,778,782,3539,27907,27908,45978</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32507666$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Miura, Masaki</creatorcontrib><creatorcontrib>Ishiyama, Akihiko</creatorcontrib><creatorcontrib>Nakagawa, Eiji</creatorcontrib><creatorcontrib>Sasaki, Masayuki</creatorcontrib><creatorcontrib>Kurosawa, Kenji</creatorcontrib><creatorcontrib>Inoue, Ken</creatorcontrib><creatorcontrib>Goto, Yu-ichi</creatorcontrib><title>13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement</title><title>Brain & development (Tokyo. 1979)</title><addtitle>Brain Dev</addtitle><description>Deletion of 13q13.3 is an extremely rare event.
We report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; and a large, round face with small organs such as the eyes and mouth positioned near the center. She was hypotonic and had autism-like behaviors. Blood tests and brain MRI revealed no specific findings. However, G-banding chromosome analysis showed an apparently balanced translocation: 46,XX,t(7,13)(q11.23;q12.3). Both parents had normal karyotypes. Furthermore, her abnormal phenotype and chromosomal breakpoint lesion were suspected to be associated. Hence, we conducted array comparative genomic hybridization, which revealed a 3.2 Mb novel pathological microdeletion at 13q13.3 involving 17 genes including neurobeachin (NBEA), a neurodevelopment disorder gene. Furthermore, fluorescence in situ hybridization using probes adjacent to the microdeletion suggested a concomitant occurrence of the deletion and translocation as the structural basis of this rare genomic variant.
NBEA may have roles in her neurodevelopmental phenotypes, whereas other genes within the 13q13.3 microdeletion may contribute to her dysmorphic features.</description><subject>13q13.3 microdeletion</subject><subject>Apparently balanced chromosomal translocation</subject><subject>array-Comparative Genomic Hybridization (a-CGH)</subject><subject>Carrier Proteins - metabolism</subject><subject>Child, Preschool</subject><subject>Chromosome Deletion</subject><subject>Chromosome Disorders - genetics</subject><subject>Chromosomes, Human, Pair 13 - genetics</subject><subject>Craniofacial Abnormalities - genetics</subject><subject>Female</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence - methods</subject><subject>Intellectual disability</subject><subject>Intellectual Disability - genetics</subject><subject>Nerve Tissue Proteins - metabolism</subject><subject>Neurodevelopmental disorder</subject><subject>Neurodevelopmental Disorders - genetics</subject><subject>Psychomotor Disorders</subject><subject>Translocation, Genetic</subject><issn>0387-7604</issn><issn>1872-7131</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1P3DAQhq2qqGxp_wLykUokHduJnaiXUkQ_JAQXKnGzHHtCvUrixfZuxb-vtwu99jSHed75eAg5ZVAzYPLjuh6i8YvDXc2BQw1tDSBfkRXrFK8UE-w1WYHoVKUkNMfkbUprAGCcwRtyLHgLSkq5IpGJRyZqQWdvY3A4YfZhoSalYL3J6Ohvn39Rs9mYiEuenuhgJrPY0sjRLGkK1vxNhJE28vz-_jyfqU9MfKBp-_CAKSd68-XqgvplF6YdzmXGO3I0minh--d6Qn5-vbq7_F5d3377cXlxXVnR81yNbWcGAOu4Qu5Gx4ce-s7wTjrXQytZ08vWDa4XtrXWNp1F67qmNQqglwLFCTk7zN3E8Lgtp-jZJ4tTOR_DNmneMFAF7WRB5QEtDlKKOOpN9LOJT5qB3vvWa_3iW-99a2h18V2Cp887tsOM7l_sRXABPh8ALJ_uPEadrMe9Px_RZu2C_9-OPzo4lG4</recordid><startdate>202009</startdate><enddate>202009</enddate><creator>Miura, Masaki</creator><creator>Ishiyama, Akihiko</creator><creator>Nakagawa, Eiji</creator><creator>Sasaki, Masayuki</creator><creator>Kurosawa, Kenji</creator><creator>Inoue, Ken</creator><creator>Goto, Yu-ichi</creator><general>Elsevier B.V</general><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>7X8</scope></search><sort><creationdate>202009</creationdate><title>13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement</title><author>Miura, Masaki ; Ishiyama, Akihiko ; Nakagawa, Eiji ; Sasaki, Masayuki ; Kurosawa, Kenji ; Inoue, Ken ; Goto, Yu-ichi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c392t-f58ab00cd27e2dfd2b9098a286dd905614965dbd93c5ccc48cecd845a700963e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>13q13.3 microdeletion</topic><topic>Apparently balanced chromosomal translocation</topic><topic>array-Comparative Genomic Hybridization (a-CGH)</topic><topic>Carrier Proteins - metabolism</topic><topic>Child, Preschool</topic><topic>Chromosome Deletion</topic><topic>Chromosome Disorders - genetics</topic><topic>Chromosomes, Human, Pair 13 - genetics</topic><topic>Craniofacial Abnormalities - genetics</topic><topic>Female</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence - methods</topic><topic>Intellectual disability</topic><topic>Intellectual Disability - genetics</topic><topic>Nerve Tissue Proteins - metabolism</topic><topic>Neurodevelopmental disorder</topic><topic>Neurodevelopmental Disorders - genetics</topic><topic>Psychomotor Disorders</topic><topic>Translocation, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Miura, Masaki</creatorcontrib><creatorcontrib>Ishiyama, Akihiko</creatorcontrib><creatorcontrib>Nakagawa, Eiji</creatorcontrib><creatorcontrib>Sasaki, Masayuki</creatorcontrib><creatorcontrib>Kurosawa, Kenji</creatorcontrib><creatorcontrib>Inoue, Ken</creatorcontrib><creatorcontrib>Goto, Yu-ichi</creatorcontrib><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>Brain & development (Tokyo. 1979)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Miura, Masaki</au><au>Ishiyama, Akihiko</au><au>Nakagawa, Eiji</au><au>Sasaki, Masayuki</au><au>Kurosawa, Kenji</au><au>Inoue, Ken</au><au>Goto, Yu-ichi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement</atitle><jtitle>Brain & development (Tokyo. 1979)</jtitle><addtitle>Brain Dev</addtitle><date>2020-09</date><risdate>2020</risdate><volume>42</volume><issue>8</issue><spage>581</spage><epage>586</epage><pages>581-586</pages><issn>0387-7604</issn><eissn>1872-7131</eissn><abstract>Deletion of 13q13.3 is an extremely rare event.
We report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; and a large, round face with small organs such as the eyes and mouth positioned near the center. She was hypotonic and had autism-like behaviors. Blood tests and brain MRI revealed no specific findings. However, G-banding chromosome analysis showed an apparently balanced translocation: 46,XX,t(7,13)(q11.23;q12.3). Both parents had normal karyotypes. Furthermore, her abnormal phenotype and chromosomal breakpoint lesion were suspected to be associated. Hence, we conducted array comparative genomic hybridization, which revealed a 3.2 Mb novel pathological microdeletion at 13q13.3 involving 17 genes including neurobeachin (NBEA), a neurodevelopment disorder gene. Furthermore, fluorescence in situ hybridization using probes adjacent to the microdeletion suggested a concomitant occurrence of the deletion and translocation as the structural basis of this rare genomic variant.
NBEA may have roles in her neurodevelopmental phenotypes, whereas other genes within the 13q13.3 microdeletion may contribute to her dysmorphic features.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>32507666</pmid><doi>10.1016/j.braindev.2020.05.006</doi><tpages>6</tpages></addata></record> |
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| subjects | 13q13.3 microdeletion Apparently balanced chromosomal translocation array-Comparative Genomic Hybridization (a-CGH) Carrier Proteins - metabolism Child, Preschool Chromosome Deletion Chromosome Disorders - genetics Chromosomes, Human, Pair 13 - genetics Craniofacial Abnormalities - genetics Female Humans In Situ Hybridization, Fluorescence - methods Intellectual disability Intellectual Disability - genetics Nerve Tissue Proteins - metabolism Neurodevelopmental disorder Neurodevelopmental Disorders - genetics Psychomotor Disorders Translocation, Genetic |
| title | 13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement |
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