Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation
The association of rare chromosomal rearrangements involving a specific 17q breakpoint with campomelic syndrome (CMPS) and or sex reversal (SR) has led to an assignment of the CMPS1 SRA1 locus to 17q24.3→q25.1. We describe a patient with multiple anomalies and SR, who had a de novo t(12;17) transloc...
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| Veröffentlicht in: | American Journal of Medical Genetics 1995-03, Vol.56 (1), p.31-34 |
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| container_title | American Journal of Medical Genetics |
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| creator | Ninomiya, Shinsuke Narahara, Kouji Tsuji, Kazushiro Yokoyama, Yuji Ito, Satoko Seino, Yoshiki |
| description | The association of rare chromosomal rearrangements involving a specific 17q breakpoint with campomelic syndrome (CMPS) and or sex reversal (SR) has led to an assignment of the CMPS1 SRA1 locus to 17q24.3→q25.1. We describe a patient with multiple anomalies and SR, who had a de novo t(12;17) translocation. The phenotype was consistent with that of CMPS except for the lack of lower limb bowing and talipes equinovarus. Chromosome painting indicated that the breakpoints appeared to have occurred at 12q21.32 and 17q24.3 or q25.1. This study suggests that acampomelic CMPD with SR represents a variant of the CMPS1/SRA1 locus disorder. We emphasize the likelihood that CMPS may be a contiguous gene syndrome. © 1995 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320560109 |
| format | Article |
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We describe a patient with multiple anomalies and SR, who had a de novo t(12;17) translocation. The phenotype was consistent with that of CMPS except for the lack of lower limb bowing and talipes equinovarus. Chromosome painting indicated that the breakpoints appeared to have occurred at 12q21.32 and 17q24.3 or q25.1. This study suggests that acampomelic CMPD with SR represents a variant of the CMPS1/SRA1 locus disorder. 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J. Med. Genet</addtitle><description>The association of rare chromosomal rearrangements involving a specific 17q breakpoint with campomelic syndrome (CMPS) and or sex reversal (SR) has led to an assignment of the CMPS1 SRA1 locus to 17q24.3→q25.1. We describe a patient with multiple anomalies and SR, who had a de novo t(12;17) translocation. The phenotype was consistent with that of CMPS except for the lack of lower limb bowing and talipes equinovarus. Chromosome painting indicated that the breakpoints appeared to have occurred at 12q21.32 and 17q24.3 or q25.1. This study suggests that acampomelic CMPD with SR represents a variant of the CMPS1/SRA1 locus disorder. We emphasize the likelihood that CMPS may be a contiguous gene syndrome. © 1995 Wiley‐Liss, Inc.</description><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>BIOLOGY AND MEDICINE, BASIC STUDIES</subject><subject>campomelic syndrome</subject><subject>CHROMOSOMAL ABERRATIONS</subject><subject>chromosome 17</subject><subject>Chromosome Banding</subject><subject>chromosome painting</subject><subject>Chromosomes, Human, Pair 12</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Complex syndromes</subject><subject>CONGENITAL MALFORMATIONS</subject><subject>contiguous gene syndrome</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>GENES</subject><subject>GENETIC MAPPING</subject><subject>GENOTYPE</subject><subject>Gonadal Dysgenesis, 46,XY - complications</subject><subject>Gonadal Dysgenesis, 46,XY - genetics</subject><subject>HUMAN CHROMOSOME 12</subject><subject>HUMAN CHROMOSOME 17</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Osteochondrodysplasias - complications</subject><subject>Osteochondrodysplasias - genetics</subject><subject>PATIENTS</subject><subject>PHENOTYPE</subject><subject>POLYMERASE CHAIN REACTION</subject><subject>sex reversal</subject><subject>SRY</subject><subject>Syndrome</subject><subject>translocation</subject><subject>Translocation, Genetic</subject><subject>UROGENITAL SYSTEM DISEASES</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>eNqFkEFvEzEQRi0EKqFw5oTkA0Jw2Nb2ej1e9RQVCKACQiriaDneMXXZXae20zb_no0SBThxsUcz7xtbj5DnnJ1wxsSpvR5-nvBasEYxztoHZDadqtJK6IdkxrjUFYi2fUye5HzNGJ8a4ogcAUgALWbEzJ0dVnHAPjj6V5k3Y5emmtqxoxnvacJbTNn21OYcXbAFO3oXyhXtkI7xNtLymoszDm9oSXbMfXS2hDg-JY-87TM-29_H5Pv7d5fnH6qLr4uP5_OLyslatZVeInrtgamGIzgvuBBKcemX3suaa95gY6fOEtC1jQSpQTjOau0aLzuE-pjQ3d6YSzDZhYLuysVxRFdM2zLgE_Jqh6xSvFljLmYI2WHf2xHjOhsAAYzpdgJPd6BLMeeE3qxSGGzaGM7M1rrZWjd_rE-JF_vV6-WA3YHfa57mL_dzm53t_WTIhXzAaqm4qrfY2Q67Cz1u_veqmX_6vPjnE9UuHXLB-0Papl9GQQ2N-fFlYeDy7TcOShpW_wbWhKnI</recordid><startdate>19950313</startdate><enddate>19950313</enddate><creator>Ninomiya, Shinsuke</creator><creator>Narahara, Kouji</creator><creator>Tsuji, Kazushiro</creator><creator>Yokoyama, Yuji</creator><creator>Ito, Satoko</creator><creator>Seino, Yoshiki</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>19950313</creationdate><title>Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation</title><author>Ninomiya, Shinsuke ; Narahara, Kouji ; Tsuji, Kazushiro ; Yokoyama, Yuji ; Ito, Satoko ; Seino, Yoshiki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4369-8beef8f70651e7cf21226614fbff431815e5a266b7ec95474872c1038c5f4de73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>BIOLOGY AND MEDICINE, BASIC STUDIES</topic><topic>campomelic syndrome</topic><topic>CHROMOSOMAL ABERRATIONS</topic><topic>chromosome 17</topic><topic>Chromosome Banding</topic><topic>chromosome painting</topic><topic>Chromosomes, Human, Pair 12</topic><topic>Chromosomes, Human, Pair 17</topic><topic>Complex syndromes</topic><topic>CONGENITAL MALFORMATIONS</topic><topic>contiguous gene syndrome</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>GENES</topic><topic>GENETIC MAPPING</topic><topic>GENOTYPE</topic><topic>Gonadal Dysgenesis, 46,XY - complications</topic><topic>Gonadal Dysgenesis, 46,XY - genetics</topic><topic>HUMAN CHROMOSOME 12</topic><topic>HUMAN CHROMOSOME 17</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Osteochondrodysplasias - complications</topic><topic>Osteochondrodysplasias - genetics</topic><topic>PATIENTS</topic><topic>PHENOTYPE</topic><topic>POLYMERASE CHAIN REACTION</topic><topic>sex reversal</topic><topic>SRY</topic><topic>Syndrome</topic><topic>translocation</topic><topic>Translocation, Genetic</topic><topic>UROGENITAL SYSTEM DISEASES</topic><toplevel>online_resources</toplevel><creatorcontrib>Ninomiya, Shinsuke</creatorcontrib><creatorcontrib>Narahara, Kouji</creatorcontrib><creatorcontrib>Tsuji, Kazushiro</creatorcontrib><creatorcontrib>Yokoyama, Yuji</creatorcontrib><creatorcontrib>Ito, Satoko</creatorcontrib><creatorcontrib>Seino, Yoshiki</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>Ninomiya, Shinsuke</au><au>Narahara, Kouji</au><au>Tsuji, Kazushiro</au><au>Yokoyama, Yuji</au><au>Ito, Satoko</au><au>Seino, Yoshiki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation</atitle><jtitle>American Journal of Medical Genetics</jtitle><addtitle>Am. 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We emphasize the likelihood that CMPS may be a contiguous gene syndrome. © 1995 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>7747782</pmid><doi>10.1002/ajmg.1320560109</doi><tpages>4</tpages></addata></record> |
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| subjects | Base Sequence Biological and medical sciences BIOLOGY AND MEDICINE, BASIC STUDIES campomelic syndrome CHROMOSOMAL ABERRATIONS chromosome 17 Chromosome Banding chromosome painting Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 17 Complex syndromes CONGENITAL MALFORMATIONS contiguous gene syndrome Fatal Outcome Female GENES GENETIC MAPPING GENOTYPE Gonadal Dysgenesis, 46,XY - complications Gonadal Dysgenesis, 46,XY - genetics HUMAN CHROMOSOME 12 HUMAN CHROMOSOME 17 Humans Infant, Newborn Male Medical genetics Medical sciences Molecular Sequence Data Osteochondrodysplasias - complications Osteochondrodysplasias - genetics PATIENTS PHENOTYPE POLYMERASE CHAIN REACTION sex reversal SRY Syndrome translocation Translocation, Genetic UROGENITAL SYSTEM DISEASES |
| title | Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation |
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