Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome-another locus for Brachmann-de Lange syndrome on 4p?
We describe a 3‐year‐old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low‐set ears, dysphonic hoarse voice, hyperactivity, and small hands with proximal placeme...
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| Veröffentlicht in: | American journal of medical genetics 2000-03, Vol.91 (3), p.180-184 |
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| container_title | American journal of medical genetics |
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| creator | Mau, Ulrike A. Backsch, Claudia Schaudt, Heidrun Trefz, Friedrich-Karl Kaiser, Peter |
| description | We describe a 3‐year‐old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low‐set ears, dysphonic hoarse voice, hyperactivity, and small hands with proximal placement of the thumbs. She had recurrent lung infections, due to earlier aspiration and immune deficiency (chronic granulomatous disease). Cytogenetic findings in this and other cases with suggestive phenotype may point to an additional locus for Brachmann‐de Lange phenotype. Am. J. Med. Genet. 91:180–184, 2000. © 2000 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1096-8628(20000320)91:3<180::AID-AJMG4>3.0.CO;2-R |
| format | Article |
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She had recurrent lung infections, due to earlier aspiration and immune deficiency (chronic granulomatous disease). Cytogenetic findings in this and other cases with suggestive phenotype may point to an additional locus for Brachmann‐de Lange phenotype. Am. J. Med. Genet. 91:180–184, 2000. © 2000 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/(SICI)1096-8628(20000320)91:3<180::AID-AJMG4>3.0.CO;2-R</identifier><identifier>PMID: 10756338</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>Biological and medical sciences ; Brachmann-de Lange syndrome ; Child, Preschool ; chromosomal abnormality ; Chromosome aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 4 ; Chromosomes, Human, Pair 8 ; de Lange syndrome ; De Lange Syndrome - genetics ; Female ; Humans ; immune deficiency ; Intellectual Disability - genetics ; Karyotyping ; Medical genetics ; Medical sciences ; Monosomy ; partial monosomy 8p ; partial trisomy 4p ; Trisomy</subject><ispartof>American journal of medical genetics, 2000-03, Vol.91 (3), p.180-184</ispartof><rights>Copyright © 2000 Wiley‐Liss, Inc.</rights><rights>2000 INIST-CNRS</rights><rights>Copyright 2000 Wiley-Liss, Inc.</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c4354-b87b9c1926ad1ac34d2afa0ce7740c97afa704cad8b4765b41ae020003973ca03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1294916$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10756338$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mau, Ulrike A.</creatorcontrib><creatorcontrib>Backsch, Claudia</creatorcontrib><creatorcontrib>Schaudt, Heidrun</creatorcontrib><creatorcontrib>Trefz, Friedrich-Karl</creatorcontrib><creatorcontrib>Kaiser, Peter</creatorcontrib><title>Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome-another locus for Brachmann-de Lange syndrome on 4p?</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We describe a 3‐year‐old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low‐set ears, dysphonic hoarse voice, hyperactivity, and small hands with proximal placement of the thumbs. She had recurrent lung infections, due to earlier aspiration and immune deficiency (chronic granulomatous disease). Cytogenetic findings in this and other cases with suggestive phenotype may point to an additional locus for Brachmann‐de Lange phenotype. Am. J. Med. Genet. 91:180–184, 2000. © 2000 Wiley‐Liss, Inc.</description><subject>Biological and medical sciences</subject><subject>Brachmann-de Lange syndrome</subject><subject>Child, Preschool</subject><subject>chromosomal abnormality</subject><subject>Chromosome aberrations</subject><subject>Chromosome Banding</subject><subject>Chromosomes, Human, Pair 4</subject><subject>Chromosomes, Human, Pair 8</subject><subject>de Lange syndrome</subject><subject>De Lange Syndrome - genetics</subject><subject>Female</subject><subject>Humans</subject><subject>immune deficiency</subject><subject>Intellectual Disability - genetics</subject><subject>Karyotyping</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Monosomy</subject><subject>partial monosomy 8p</subject><subject>partial trisomy 4p</subject><subject>Trisomy</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkV1v0zAUhiMEYmXwF5AvENouXPzVOC6IqQQoRWWVxtB6d-Q67hpI4mKnGv1H_EzcpRQkEOTGyqvHb07OkyRnlPQpIezZycdJPjmlRKU4S1l2wkh8OCOnig75C5qR4XA0eY1H7z-MxUveJ_189pzhiztJ73DnbtIjVGRYMqWOkgchfCaExoDdT44okYOU86yXfL9ceWvx1mqPXVWg69JX6KZsV2itfVvqCrW-DK7eIrFGuikOce0ad5tn6473Nth6UenGWNQ69Mprs6p10-DCoqluri0K26bwrrZYN65dWY8qZzYBLZ3_F41cE7999jC5t9RVsI_253Hy6e2by_wdns7Gk3w0xUbwgcCLTC6UoYqluqDacFEwvdTEWCkFMUrGF0mE0UW2EDIdLATVluy2y5XkRhN-nDztetfefd3Y0EJdBmOr-GPWbQJISgQTqYzgVQca70LwdglrX9bab4ES2EkE2EmEnRDYCYGfEkFR4BAlAkSJcCsxBgTyGTC4iM2P9yNsFrUtfuvtrEXgyR7Qwehq6ePSy_CLY0oomkZs3mE3ZWW3f4z33-n-NlwXxGrcVZehtd8O1dp_gbgaOYCr8zHMuTxXYzWHnP8A_OzWHQ</recordid><startdate>20000320</startdate><enddate>20000320</enddate><creator>Mau, Ulrike A.</creator><creator>Backsch, Claudia</creator><creator>Schaudt, Heidrun</creator><creator>Trefz, Friedrich-Karl</creator><creator>Kaiser, Peter</creator><general>John Wiley & Sons, Inc</general><general>Wiley-Liss</general><scope>BSCLL</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>7X8</scope></search><sort><creationdate>20000320</creationdate><title>Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome-another locus for Brachmann-de Lange syndrome on 4p?</title><author>Mau, Ulrike A. ; Backsch, Claudia ; Schaudt, Heidrun ; Trefz, Friedrich-Karl ; Kaiser, Peter</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4354-b87b9c1926ad1ac34d2afa0ce7740c97afa704cad8b4765b41ae020003973ca03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Biological and medical sciences</topic><topic>Brachmann-de Lange syndrome</topic><topic>Child, Preschool</topic><topic>chromosomal abnormality</topic><topic>Chromosome aberrations</topic><topic>Chromosome Banding</topic><topic>Chromosomes, Human, Pair 4</topic><topic>Chromosomes, Human, Pair 8</topic><topic>de Lange syndrome</topic><topic>De Lange Syndrome - genetics</topic><topic>Female</topic><topic>Humans</topic><topic>immune deficiency</topic><topic>Intellectual Disability - genetics</topic><topic>Karyotyping</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Monosomy</topic><topic>partial monosomy 8p</topic><topic>partial trisomy 4p</topic><topic>Trisomy</topic><toplevel>online_resources</toplevel><creatorcontrib>Mau, Ulrike A.</creatorcontrib><creatorcontrib>Backsch, Claudia</creatorcontrib><creatorcontrib>Schaudt, Heidrun</creatorcontrib><creatorcontrib>Trefz, Friedrich-Karl</creatorcontrib><creatorcontrib>Kaiser, Peter</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>Mau, Ulrike A.</au><au>Backsch, Claudia</au><au>Schaudt, Heidrun</au><au>Trefz, Friedrich-Karl</au><au>Kaiser, Peter</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome-another locus for Brachmann-de Lange syndrome on 4p?</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2000-03-20</date><risdate>2000</risdate><volume>91</volume><issue>3</issue><spage>180</spage><epage>184</epage><pages>180-184</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We describe a 3‐year‐old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low‐set ears, dysphonic hoarse voice, hyperactivity, and small hands with proximal placement of the thumbs. She had recurrent lung infections, due to earlier aspiration and immune deficiency (chronic granulomatous disease). Cytogenetic findings in this and other cases with suggestive phenotype may point to an additional locus for Brachmann‐de Lange phenotype. Am. J. Med. 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| subjects | Biological and medical sciences Brachmann-de Lange syndrome Child, Preschool chromosomal abnormality Chromosome aberrations Chromosome Banding Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 8 de Lange syndrome De Lange Syndrome - genetics Female Humans immune deficiency Intellectual Disability - genetics Karyotyping Medical genetics Medical sciences Monosomy partial monosomy 8p partial trisomy 4p Trisomy |
| title | Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome-another locus for Brachmann-de Lange syndrome on 4p? |
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