Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome
A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf‐Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf‐Hirschhorn syndrome who had an unbalanced chromosomal transloca...
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| Veröffentlicht in: | American Journal of Medical Genetics 1995-02, Vol.55 (4), p.462-465 |
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| container_title | American Journal of Medical Genetics |
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| creator | Wheeler, Patricia G Weaver, David D. Palmer, Catherine G. |
| description | A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf‐Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf‐Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,−4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great‐uncle who also had a similar phenotype and profound mental retardation. Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39‐year‐old great‐uncle is the oldest reported individual with the Wolf‐Hirschhorn syndrome. The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized. © 1995 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320550414 |
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Ascertainment of the family was through a newborn infant with evident Wolf‐Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,−4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great‐uncle who also had a similar phenotype and profound mental retardation. Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39‐year‐old great‐uncle is the oldest reported individual with the Wolf‐Hirschhorn syndrome. The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized. © 1995 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320550414</identifier><identifier>PMID: 7762587</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; Adult ; Biological and medical sciences ; BIOLOGY AND MEDICINE, BASIC STUDIES ; CHROMOSOMAL ABERRATIONS ; Chromosome aberrations ; chromosome analysis ; Chromosome Deletion ; Chromosomes, Human, Pair 4 ; Chromosomes, Human, Pair 8 ; Face - abnormalities ; Female ; GENES ; GENETICS ; greatuncle ; HEREDITARY DISEASES ; HUMAN CHROMOSOME 8 ; HUMAN CHROMOSOMES ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability - genetics ; Karyotyping ; Male ; Medical genetics ; Medical sciences ; MENTAL DISORDERS ; mental retardation ; PATIENTS ; Pedigree ; Phenotype ; Syndrome ; Translocation, Genetic</subject><ispartof>American Journal of Medical Genetics, 1995-02, Vol.55 (4), p.462-465</ispartof><rights>Copyright © 1995 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1995 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3804-d248fb4fd87d0b9a371bcf973b5584430f184e5ed940ef4b744f01628408c27b3</citedby><cites>FETCH-LOGICAL-c3804-d248fb4fd87d0b9a371bcf973b5584430f184e5ed940ef4b744f01628408c27b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,885,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3434652$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7762587$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/90832$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Wheeler, Patricia G</creatorcontrib><creatorcontrib>Weaver, David D.</creatorcontrib><creatorcontrib>Palmer, Catherine G.</creatorcontrib><title>Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome</title><title>American Journal of Medical Genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf‐Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf‐Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,−4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great‐uncle who also had a similar phenotype and profound mental retardation. Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39‐year‐old great‐uncle is the oldest reported individual with the Wolf‐Hirschhorn syndrome. The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized. © 1995 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>BIOLOGY AND MEDICINE, BASIC STUDIES</subject><subject>CHROMOSOMAL ABERRATIONS</subject><subject>Chromosome aberrations</subject><subject>chromosome analysis</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 4</subject><subject>Chromosomes, Human, Pair 8</subject><subject>Face - abnormalities</subject><subject>Female</subject><subject>GENES</subject><subject>GENETICS</subject><subject>greatuncle</subject><subject>HEREDITARY DISEASES</subject><subject>HUMAN CHROMOSOME 8</subject><subject>HUMAN CHROMOSOMES</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Intellectual Disability - genetics</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>MENTAL DISORDERS</subject><subject>mental retardation</subject><subject>PATIENTS</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Syndrome</subject><subject>Translocation, Genetic</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU9vFCEYxonR1LV69mTCwXibFgZmYPTUbOxWU__EqPVGGAa6VAYqMF33K_kpZTObNR6MJwjP732fl_cB4ClGJxih-lTejNcnmNSoaRDF9B5YYNS1FW9rfh8sEKa8YnXXPQSPUrpBCJeH-ggcMdbWDWcL8OtcjtZZ6WCO0icXlMw2eBh1mly2_hpaD6-CM9WFjUmt1yF6mLZ-iGHUOy1vQoGdzHqAk--lk16Vq_WDvbPDJF16CZfOequKh76TbpoNgoESkq7aahmr4AY4Sg83Nq__6fYYPDClnX6yP4_Bl_PXn5cX1eWH1Zvl2WWlCEe0GmrKTU_NwNmA-k4ShntlOkb6puGUEmQwp7rRQ0eRNrRnlBqEy74o4qpmPTkGcO4bUrYiKZu1WqvgvVZZdIiTuiAvZuQ2hh-TTlmMNintyud1mJJgZee8brsCns6giiGlqI24jXaUcSswErsAxS5A8SfAUvFs33rqRz0c-H1iRX--12UqKzUlNWXTASOU0LbZTfhqxjbW6e3_XMXZ23erv4ao5mqbsv55qJbxu2gZYY24er8S3xj_1NHmo_hKfgM298bj</recordid><startdate>19950213</startdate><enddate>19950213</enddate><creator>Wheeler, Patricia G</creator><creator>Weaver, David D.</creator><creator>Palmer, Catherine G.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</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><scope>OTOTI</scope></search><sort><creationdate>19950213</creationdate><title>Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome</title><author>Wheeler, Patricia G ; Weaver, David D. ; Palmer, Catherine G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3804-d248fb4fd87d0b9a371bcf973b5584430f184e5ed940ef4b744f01628408c27b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>BIOLOGY AND MEDICINE, BASIC STUDIES</topic><topic>CHROMOSOMAL ABERRATIONS</topic><topic>Chromosome aberrations</topic><topic>chromosome analysis</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 4</topic><topic>Chromosomes, Human, Pair 8</topic><topic>Face - abnormalities</topic><topic>Female</topic><topic>GENES</topic><topic>GENETICS</topic><topic>greatuncle</topic><topic>HEREDITARY DISEASES</topic><topic>HUMAN CHROMOSOME 8</topic><topic>HUMAN CHROMOSOMES</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Intellectual Disability - genetics</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>MENTAL DISORDERS</topic><topic>mental retardation</topic><topic>PATIENTS</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Syndrome</topic><topic>Translocation, Genetic</topic><toplevel>online_resources</toplevel><creatorcontrib>Wheeler, Patricia G</creatorcontrib><creatorcontrib>Weaver, David D.</creatorcontrib><creatorcontrib>Palmer, Catherine G.</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><collection>OSTI.GOV</collection><jtitle>American Journal of Medical Genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wheeler, Patricia G</au><au>Weaver, David D.</au><au>Palmer, Catherine G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome</atitle><jtitle>American Journal of Medical Genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1995-02-13</date><risdate>1995</risdate><volume>55</volume><issue>4</issue><spage>462</spage><epage>465</epage><pages>462-465</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf‐Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf‐Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,−4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great‐uncle who also had a similar phenotype and profound mental retardation. Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39‐year‐old great‐uncle is the oldest reported individual with the Wolf‐Hirschhorn syndrome. The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized. © 1995 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>7762587</pmid><doi>10.1002/ajmg.1320550414</doi><tpages>4</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Adult Biological and medical sciences BIOLOGY AND MEDICINE, BASIC STUDIES CHROMOSOMAL ABERRATIONS Chromosome aberrations chromosome analysis Chromosome Deletion Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 8 Face - abnormalities Female GENES GENETICS greatuncle HEREDITARY DISEASES HUMAN CHROMOSOME 8 HUMAN CHROMOSOMES Humans Infant Infant, Newborn Intellectual Disability - genetics Karyotyping Male Medical genetics Medical sciences MENTAL DISORDERS mental retardation PATIENTS Pedigree Phenotype Syndrome Translocation, Genetic |
| title | Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome |
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